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Dysmorphology

Our genetic testing and medical expertise provide the most effective combination to understand the underlying causes of malformation and intellectual disability syndromes. Congenital malformations (“birth defects”) remain a leading cause of infant mortality and childhood morbidity. By offering comprehensive and rapid testing options including genome-wide copy number alterations, you can provide your patients with clear results for inherited malformation syndromes.

CentoDysmorph

CentoDysmorph is designed to help physicians diagnose patients that suffer from a dysmorphic syndrome. The panel includes craniosynostosis, craniofacial disorders, cleft/lip palate, holoprosencephaly, Waardenburg syndrome, Hirschsprung disease, lissencephaly, and brain malformation disorders, among others.

No. of genes:556
TAT:25 days
Coverage:≥99.5% ≥20x
Details:CNV analysis included

Gene OMIM (Gene) Associated diseases (OMIM) Inheritance
ABCB6 605452 Dyschromatosis universalis hereditaria 3 AD
ABCC6 603234 Pseudoxanthoma elasticum, forme fruste; Pseudoxanthoma elasticum; generalized arterial calcification of infancy type 2 AD, AR
ACTA1 102610 Myopathy, nemaline, 3; Myopathy, congenital, with fiber-type disproportion AD, AR
ACTA2 102620 Aortic aneurysm, familial thoracic 6; Multisystemic smooth muscle dysfunction syndrome; Moyamoya disease 5 AD
ACTB 102630 Baraitser-Winter syndrome 1; Dystonia, juvenile-onset AD
ACTG1 102560 Deafness, Autosomal Dominant 20; Baraitser-Winter syndrome 2 AD
ACVR2B 602730 Heterotaxy, visceral, 4, autosomal
ADAMTS2 604539 Ehlers-Danlos syndrome dermatosparaxis type AR
ADAMTSL2 612277 Geleophysic dysplasia 1 AR
ADGRG1 604110 bilateral frontoparietal polymicrogyria; bilateral perisylvian polymicrogyria AR
AFF4 604417 CHOPS syndrome AD
AGPS 603051 rhizomelic chondrodysplasia punctata type 3 AR
AGRN 103320 congenital myasthenic syndrome type 8, with pre- and postsynaptic defects AR
AHI1 608894 Joubert syndrome 3 AR
AKT3 611223 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 AD
ALDH18A1 138250 Cutis laxa, autosomal recessive, type IIIA; Spastic paraplegia 9A, autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 AD, AR
ALDH1A3 600463 isolated microphthalmia 8 AR
ALG2 607905 congenital disorder of glycosylation type 1i AR
ALPL 171760 adult hypophosphatasia; infantile hypophosphatasia; childhood-onset hypophosphatasia AD, AR
AMPD2 102771 pontocerebellar hypoplasia 9 AR
ANKH 605145 Chondrocalcinosis 2; Craniometaphyseal dysplasia AD
ANKRD11 611192 KBG syndrome AD
ANO5 608662 gnathodiaphyseal dysplasia; limb-girdle muscular dystrophy type 2L AD, AR
AP4M1 602296 autosomal recessive spastic paraplegia type 50 AR
ARFGEF2 605371 Periventricular heterotopia with microcephaly AR
ARHGAP31 610911 Adams-Oliver syndrome 1 AD
ARID1A 603024 Coffin-Siris syndrome type 2 AD
ARID1B 614556 Coffin-Siris syndrome 1 AD
ARL13B 608922 Joubert syndrome 8 AR
ARL6 608845 Bardet-Biedl syndrome type 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 AR, DiR
ARMC4 615408 primary ciliary dyskinesia, 23 AR
ARSL 300180 Chondrodysplasia punctata, X-linked recessive XLR
ARX 300382 Proud syndrome; X-linked lissencephaly-2; ARX- related mental retardation; early infantile epileptic encephalopathy 1; Partington X-Linked Mental Retardation Syndrome XL, XLR
ASPM 605481 primary microcephaly 5 AR
ASXL1 612990 Bohring-Opitz syndrome; Myelodysplastic syndrome, somatic AD
ASXL3 615115 Bainbridge-Ropers syndrome AD
ATP6V0A2 611716 autosomal recessive cutis laxa type IIA; Wrinkly skin syndrome AR
ATP7A 300011 X-linked distal spinal muscular atrophy type 3; Occipital horn syndrome; Menkes disease XLR
ATR 601215 Seckel syndrome 1; ?Cutaneous telangiectasia and cancer syndrome, familial AD, AR
ATRX 300032 Alpha-Thalassemia Myelodysplasia Syndrome; Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked; Mental retardation-hypotonic facies syndrome, X-linked XLD, XLR
B3GALNT2 610194 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11 AR
B3GALT6 615291 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures; Ehlers-Danlos syndrome spondylodysplastic type 2 AR
B3GAT3 606374 Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects AR
B4GALT7 604327 Ehlers-Danlos syndrome spondylodysplastic type 1 AR
B4GAT1 605517 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies A13 AR
B9D1 614144 Meckel Syndrome, Type 9 AR
B9D2 611951 Meckel syndrome 10 AR
BBS1 209901 Bardet-Biedl syndrome type 1 AR, DiR
BBS10 610148 Bardet-Biedl syndrome type 10 AR
BBS12 610683 Bardet-Biedl syndrome type 12 AR
BBS2 606151 Bardet-Biedl syndrome type 2; retinitis pigmentosa type 74 AR
BBS4 600374 Bardet-Biedl syndrome 4 AR
BBS5 603650 Bardet-Biedl syndrome 5 AR
BBS7 607590 Bardet-Biedl syndrome type 7 AR
BBS9 607968 Bardet-Biedl syndrome type 9 AR
BCOR 300485 Microphthalmia, syndromic 2 XLD
BGN 301870 Meester-Loeys syndrome XL, XLR
BIN1 601248 centronuclear myopathy AR
BMP1 112264 osteogenesis imperfecta type 13 AR
BMP4 112262 orofacial cleft type 11; Microphthalmia, syndromic 6 AD
BMPR1B 603248 Brachydactyly type A2; Chondrodysplasia, Acromesomelic, With Genital Anomalies AD, AR
BRAF 164757 Cardiofaciocutaneous Syndrome 1; Lung Cancer; Noonan syndrome 7; LEOPARD syndrome 3 AD
C8orf37 614477 Cone-rod dystrophy 16; Bardet-Biedl syndrome type 21 AR
CANT1 613165 Desbuquois dysplasia type 1 AR
CASK 300172 Fg Syndrome 4; Mental retardation and microcephaly with pontine and cerebellar hypoplasia XLD
CASR 601199 Hypocalciuric hypercalcemia, type I; Hyperparathyroidism, neonatal; Hypocalcemia, autosomal dominant, with Bartter syndrome; Epilepsy idiopathic generalized, susceptibility to, 8 AD, AR
CBL 165360 Leukemia, juvenile myelomonocytic; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia AD
CBS 613381 homocystinuria with or without response to pyridoxine AR
CC2D2A 612013 COACH syndrome; Meckel syndrome 6; Joubert syndrome 9 AR
CCDC103 614677 Ciliary dyskinesia, primary, 17 AR
CCDC114 615038 Ciliary dyskinesia, primary, 20 AR
CCDC151 615956 primary Ciliary dyskinesia type 30 AR
CCDC28B 610162 Bardet-Biedl syndrome type 1 AR, DiR
CCDC39 613798 Ciliary dyskinesia, primary, 14
CCDC40 613799 Ciliary dyskinesia, primary, 15
CCDC65 611088 Ciliary dyskinesia, primary, 27 AR
CCM2 607929 Cerebral Cavernous Malformations type 2 AD
CCNO 607752 primary ciliary dyskinesia type 29 AR
CDK5RAP2 608201 primary microcephaly 3 AR
CDKN1C 600856 Beckwith-Wiedemann syndrome; IMAGE syndrome AD
CDON 608707 Holoprosencephaly 11 AD
CENPF 600236 Stromme syndrome AR
CENPJ 609279 primary microcephaly 6; Seckel syndrome 4 AR
CEP135 611423 primary microcephaly 8 AR
CEP152 613529 Seckel syndrome 5; primary microcephaly 9 AR
CEP164 614848 nephronophthisis 15 AR
CEP290 610142 Joubert syndrome type 5; Senior-Loken syndrome type 6; Meckel syndrome type 4; Leber congenital amaurosis type 10; Bardet-Biedl syndrome type 14 AR
CEP41 610523 Joubert syndrome 15 AR
CEP63 614724 Seckel syndrome 6 AR
CFAP298 615494 primary ciliary dyskinesia type 26 AR
CFAP53 614759 Heterotaxy, visceral, 6, autosomal recessive AR
CFC1 605194 Heterotaxy, visceral, 2, autosomal AD
CFL2 601443 nemaline myopathy type 7 AR
CHAT 118490 Presynaptic congenital myasthenic syndrome type 6 AR
CHD7 608892 CHARGE syndrome; hypogonadotropic hypogonadism-5 with or without anosmia AD
CHMP1A 164010 pontocerebellar hypoplasia 8 AR
CHRNA1 100690 Multiple pterygium syndrome, lethal type; Myasthenic syndrome, slow-channel congenital; Myasthenic syndrome, fast-channel congenital AD, AR
CHRNB1 100710 Myasthenic syndrome, congenital, 2A, slow-channel; Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency AD, AR
CHRND 100720 Multiple pterygium syndrome, lethal type; slow-channel congenital myasthenic syndrome type 3A; Congenital fast-channel myasthenic syndrome type 3B; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency AD, AR
CHRNE 100725 slow-channel congenital myasthenic syndrome type 4A; congenital myasthenic syndrome type 4C, associated with acetylcholine receptor deficiency; fast-channel congenital myasthenic syndrome type 4B AD, AR
CHRNG 100730 Multiple pterygium syndrome, lethal type; Multiple Pterygium Syndrome, Escobar Variant AR
CHST14 608429 Ehlers-Danlos syndrome musculocontractural type 1 AR
CHSY1 608183 AR
CILK1 612325 AD, AR
CLCN5 300008 Dent disease; Hypophosphatemic rickets; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis; Nephrolithiasis, type I XLR
COASY 609855 Neurodegeneration with brain iron accumulation 6; Pontocerebellar hypoplasia type 12 AR
COL10A1 120110 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE AD
COL11A1 120280 Marshall syndrome; Fibrochondrogenesis 1; Stickler syndrome 2 AD, AR
COL11A2 120290 Stickler syndrome, type III; Otospondylomegaepiphyseal dysplasia; Deafness, autosomal dominant 13; Deafness, autosomal recessive 53; Fibrochondrogenesis 2 AD, AR
COL12A1 120320 Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 AD
COL1A1 120150 Caffey disease; Ehlers-Danlos syndrome arthrochalasia type 1; osteogenesis imperfecta type 1; osteogenesis imperfecta type 2; osteogenesis imperfecta type 4; OSTEOPOROSIS; osteogenesis imperfecta type 3 AD
COL1A2 120160 osteogenesis imperfecta type 2; osteogenesis imperfecta type 4; OSTEOPOROSIS; Ehlers-Danlos syndrome, cardiac valvular form; osteogenesis imperfecta type 3; Ehlers-Danlos syndrome arthrochalasia type 2 AD, AR
COL2A1 120140 Epiphyseal dysplasia, multiple, with myopia and deafness; Legg-Calve-Perthes disease; Platyspondylic skeletal dysplasia, Torrance type; Kniest dysplasia; congenital spondyloepiphyseal dysplasia; SMED Strudwick type; Achondrogenesis, type II or hypochondrogenesis; Spondyloperipheral dysplasia; Osteoarthritis with mild chondrodysplasia; Avascular necrosis of the femoral head; Czech dysplasia; Stickler syndrome type 1; Stanescu type spondyloepiphyseal dysplasia AD
COL3A1 120180 vascular-type Ehlers-Danlos syndrome AD, AR
COL4A1 120130 porencephaly 1; Brain small vessel disease with or without ocular anomalies; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Hemorrhage, intracerebral, susceptibility to AD
COL5A1 120215 Ehlers-Danlos syndrome classic type 1 AD
COL5A2 120190 Ehlers-Danlos syndrome classic type 2 AD
COL6A1 120220 Bethlem myopathy type 1; Ullrich congenital muscular dystrophy AD, AR
COL6A2 120240 Bethlem myopathy type 1; Ullrich congenital muscular dystrophy AD, AR
COL6A3 120250 Bethlem myopathy type 1; Ullrich congenital muscular dystrophy; dystonia 27 AD, AR
COL9A1 120210 Stickler syndrome, type IV; Epiphyseal dysplasia, multiple, 6 AD
COL9A2 120260 Stickler syndrome, type V AD, AR
COL9A3 120270 multiple epiphyseal dysplasia type 3 AD
COLQ 603033 congenital myasthenic syndrome type 5 AR
COMP 600310 Epiphyseal Dysplasia, Multiple, 1; Pseudoachondroplasia AD
COX7B 300885 Linear skin defects with multiple congenital anomalies 2 XLD
CPLANE1 614571 oral-facial-digital syndrome 6; Joubert syndrome 17 AR
CREB3L1 616215 osteogenesis imperfecta type 16 AR
CREBBP 600140 Rubinstein-Taybi syndrome 1 AD
CRELD1 607170 Atrioventricular septal defect, partial, with heterotaxy syndrome AD
CRIPT 604594 Short stature with microcephaly and distinctive facies AR
CRPPA 614631 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C7 AR
CRTAP 605497 osteogenesis imperfecta type 7 AR
CSPP1 611654 Joubert syndrome 21 AR
CUL7 609577 3-M syndrome AR
CYP1B1 601771 primary congenital glaucoma type 3A; anterior segment dysgenesis type 6, multiple subtypes AR
DAG1 128239 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type C9 AR
DCX 300121 type 1 lissencephaly XL
DDR2 191311 Spondylometaepiphyseal dysplasia, short limb-hand type AD, AR
DHCR24 606418 Desmosterolosis AR
DHCR7 602858 Smith-Lemli-Opitz syndrome AR
DMP1 600980 Hypophosphatemic Rickets, Autosomal Recessive, 1 AR
DNAAF1 613190 Ciliary dyskinesia, primary, 13 AR
DNAAF2 612517 Ciliary dyskinesia, primary, 10
DNAAF3 614566 Ciliary dyskinesia, primary, 2 AR
DNAAF4 608706 Ciliary dyskinesia, primary, 25 AD, AR
DNAAF5 614864 Ciliary dyskinesia, primary, 18 AR
DNAH11 603339 primary ciliary dyskinesia type 7, with or without situs inversus AR
DNAH5 603335 primary ciliary dyskinesia type 3, with or without situs inversus
DNAI1 604366 primary ciliary dyskinesia type 1, with or without situs inversus AR
DNAI2 605483 primary ciliary dyskinesia type 9, with or without situs inversus
DNAL1 610062 Ciliary dyskinesia, primary, 16 AR
DNM2 602378 Myopathy, centronuclear 1; CHARCOT-MARIE-TOOTH, DOMINANT INTERMEDIATE TYPE B; Lethal congenital contracture syndrome 5 AD, AR
DOK7 610285 congenital myasthenic syndrome type 10 AR
DPAGT1 191350 congenital disorder of glycosylation type 1j; Myasthenic syndrome, congenital, with tubular aggregates 13 AR
DRC1 615288 primary ciliary dyskinesia, 21 AR
DSE 605942 Ehlers-Danlos syndrome musculocontractural type 2 AR
DYM 607461 Dyggve-Melchior-Clausen disease AR
DYNC1H1 600112 lower extremity-predominant spinal muscular atrophy type 1; type 2O Charcot-Marie-Tooth disease; mental retardation-13 AD
DYNC2H1 603297 short-rib thoracic dysplasia-3 with or without polydactyly AR, DiR
DYNC2I1 615462 Short-rib thoracic dysplasia 8 with or without polydactyly AR
DYNC2I2 613363 Short-rib thoracic dysplasia 11 with or without polydactyly AR
DYRK1A 600855 MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 AD
EBP 300205 MEND syndrome; Chondrodysplasia punctata, X-linked dominant XLD, XLR
ECE1 600423 Hirschsprung disease, cardiac defects, and autonomic dysfunction AD
ECEL1 605896 distal arthrogryposis type 5D AR
EDN3 131242 congenital central hypoventilation syndrome; Waardenburg syndrome type 4B; Hirschsprung disease 4 AD, AR
EDNRB 131244 Waardenburg syndrome type 4A; Hirschsprung disease, susceptibility to, 2; ABCD syndrome AD, AR
EFEMP2 604633 Cutis laxa, autosomal recessive, type IB AR
EFNB1 300035 Craniofrontonasal dysplasia XLD
EFTUD2 603892 Mandibulofacial dysostosis, Guion-Almeida type AD
EGR2 129010 Dejerine-Sottas syndrom; congenital hypomyelinating neuropathy; type 1D Charcot-Marie-Tooth disease AD, AR
EIF2AK3 604032 Wolcott-Rallison syndrome AR
ELN 130160 Cutis laxa, autosomal dominant 1, ADCL1; Supravalvar aortic stenosis AD
ENPP1 173335 noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Arterial calcification, generalized, of infancy, 1; OBESITY; Hypophosphatemic rickets, autosomal recessive, 2; Cole disease AD, AR
ERCC1 126380 Cerebrooculofacioskeletal syndrome 4 AR
ERCC2 126340 xeroderma pigmentosum complementation group D; photosensitive trichothiodystrophy type 1; cerebrooculofacioskeletal syndrome type 2 AR
ERCC5 133530 xeroderma pigmentosum complementation group G; cerebrooculofacioskeletal syndrome type 3 AR
ERCC6 609413 Cockayne syndrome, type B; Lung Cancer; Cerebrooculofacioskeletal syndrome 1 AD, AR
ERF 611888 Craniosynostosis 4 AD
ESCO2 609353 Roberts syndrome AR
EVC 604831 Weyers acrofacial dysostosis; Ellis-van Creveld syndrome AD, AR
EVC2 607261 Weyers acrofacial dysostosis; Ellis-van Creveld syndrome AD, AR
EXOSC3 606489 pontocerebellar hypoplasia type 1B AR
FAS 134637 Autoimmune lymphoproliferative syndrome AD
FBLN5 604580 Cutis laxa, autosomal recessive, type IA; hereditary neuropathy with or without age-related macular degeneration AD, AR
FBN1 134797 Marfan syndrome; stiff skin syndrome; Weill-Marchesani syndrome 2; geleophysic dysplasia 2; Marfan lipodystrophy syndrome AD
FBN2 612570 congenital contractural arachnodactyly; early-onset macular degeneration AD
FGF23 605380 Hypophosphatemic rickets, autosomal dominant AD, AR
FGF8 600483 hypogonadotropic hypogonadism 6 with or without anosmia AD
FGFR1 136350 Craniofacial-skeletal-dermatologic dysplasia; Jackson-Weiss syndrome; hypogonadotropic hypogonadism-2 with or without anosmia; Osteoglophonic dysplasia; Hartsfield syndrome AD
FGFR2 176943 Apert syndrome; Saethre-Chotzen Syndrome; Craniofacial-skeletal-dermatologic dysplasia; Jackson-Weiss syndrome; Crouzon syndrome; Beare-Stevenson cutis gyrata syndrome; Lacrimoauriculodentodigital Syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Scaphocephaly, maxillary retrusion, and mental retardation; Gastric Cancer; Bent bone dysplasia syndrome AD
FGFR3 134934 Achondroplasia; Bladder Cancer; colorectal cancer; Hypochondroplasia; Lacrimoauriculodentodigital Syndrome; Nevus, Epidermal; Thanatophoric dysplasia, type I; Thanatophoric dysplasia, type II; Spermatocytic seminoma, somatic; Muenke syndrome; Cervical cancer, somatic; CATSHL syndrome; Crouzon syndrome with acanthosis nigricans AD, AR
FHL1 300163 Scapuloperoneal myopathy, X-linked dominant; Myopathy, X-linked, with postural muscle atrophy; Emery-Dreifuss muscular dystrophy 6; Myopathy, Reducing Body, X-Linked, Early-Onset, Severe; Myopathy, reducing body, X-linked, childhood-onset XL, XLD, XLR
FKBP10 607063 Bruck syndrome 1; osteogenesis imperfecta type 11 AR
FKBP14 614505 Ehlers-Danlos syndrome kyphoscoliotic type 2 AR
FKRP 606596 Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B5; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C5; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 AR
FKTN 607440 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A4; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C4; dilated cardiomyopathy type 1X; congenital muscular dystrophy-dystroglycanopathy without mental retardation type B4 AR
FLCN 607273 colorectal cancer; Birt-Hogg-Dube syndrome; Renal carcinoma, chromophobe, somatic; primary spontaneous pneumothorax AD
FLNA 300017 Congenital short bowel syndrome; Heterotopia, periventricular / X-linked periventricular heterotopia; Terminal osseous dysplasia; FG syndrome 2; Otopalatodigital syndrome, type II; Frontometaphyseal dysplasia; Melnick-Needles syndrome; otopalatodigital syndrome type I; Cardiac valvular dysplasia, X-linked XL, XLD, XLR
FLNB 603381 Atelosteogenesis, type i; Atelosteogenesis, type iii; Boomerang dysplasia; Larsen syndrome; Spondylocarpotarsal synostosis syndrome AD, AR
FOXC1 601090 Iridogoniodysgenesis, type 1; Axenfeld-Rieger syndrome, type 3 AD
FOXE3 601094 Anterior segment dysgenesis 2, multiple subtypes; Cataract 34, multiple types AD, AR
FOXH1 603621
FOXL2 605597 Blepharophimosis, epicanthus inversus, and ptosis AD, AR
FRAS1 607830 Fraser syndrome AR
FREM1 608944 Manitoba oculotrichoanal syndrome; Bifid nose with or without anorectal and renal anomalies; Trigonocephaly 2 AD, AR
FREM2 608945 Fraser syndrome type 2 AR
GBA 606463 Lewy body dementia; Susceptibility to late-onset Parkinson disease; Gaucher disease type 1; Gaucher disease type 2 (acute); Gaucher disease type 3 (subacute/ chronic); Gaucher disease, cardiovascular form; Gaucher disease, perinatal-lethal form AD, AR
GBE1 607839 storage disease type 4; Polyglucosan body disease, adult form AR
GDF1 602880 Right atrial isomerism; Transposition of the great arteries, dextro-looped 3 AD, AR
GDF3 606522 Klippel-Feil syndrome 3, autosomal dominant; Microphthalmia with coloboma 6; isolated microphthalmia 7 AD
GDF5 601146 Brachydactyly type A2; Brachydactyly type C; Grebe type chondrodysplasia; Hunter-Thompson type of acromesomelic dysplasia; Du Pan syndrome; multiple synostoses syndrome type 2; susceptibility to osteoarthritis type 5; brachydactyly type A1; proximal symphalangism type 1B AD, AR
GDF6 601147 Klippel-feil syndrome 1, autosomal dominant; isolated microphthalmia 4; Microphthalmia with coloboma 6; Leber congenital amaurosis 17 AD, AR
GDNF 600837 pheochromocytoma; congenital central hypoventilation syndrome; Hirschsprung Disease, Susceptibility To, 3 AD
GFPT1 138292 congenital myasthenic syndrome with tubular aggregates type 1 AR
GJA1 121014 Oculodentodigital dysplasia AD, AR
GLE1 603371 Lethal congenital, contracture syndrome 1 AR
GLI2 165230 holoprosencephaly 9; Culler-Jones syndrome AD
GLI3 165240 Pallister-Hall syndrome; Polydactyly, postaxial, types A1 and B; Preaxial polydactyly type IV; Greig cephalopolysyndactyly syndrome AD
GMPPB 615320 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 AR
GNAS 139320 Pseudohypoparathyroidism Ia; Osseous heteroplasia, progressive; McCune-Albright syndrome, somatic, mosaic; ACTH-independent macronodular adrenal hyperplasia; Pseudohypoparathyroidism type Ib; Pseudohypoparathyroidism Ic; Pseudopseudohypoparathyroidism AD
GNPAT 602744 rhizomelic chondrodysplasia punctata type 2 AR
GORAB 607983 geroderma osteodysplasticum AR
GRIP1 604597 AR
HCCS 300056 Microphthalmia, syndromic 7 XLD
HDAC8 300269 Cornelia de Lange syndrome 5 XLD
HESX1 601802 Septooptic dysplasia AD, AR
HEXA 606869 Tay-Sachs disease/ GM2-gangliosidosis AR
HMGB3 300193 XL
HMX1 142992 AR
HRAS 190020 Bladder Cancer; Melanocytic nevus syndrome, congenital, somatic; Nevus, Epidermal; Schimmelpenning-Feuerstein-Mims Syndrome; Thyroid Carcinoma, Follicular; Costello syndrome AD
HSPG2 142461 Silverman-Handmaker type of dyssegmental dysplasia; Schwartz-Jampel syndrome AR
HUWE1 300697 syndromic mental retardation, Turner type XL
HYDIN 610812 primary ciliary dyskinesia type 5 AR
HYLS1 610693 Hydrolethalus syndrome AR
IER3IP1 609382 Microcephaly, epilepsy, and diabetes syndrome AR
IFITM5 614757 osteogenesis imperfecta type 5 AD
IFT122 606045 Cranioectodermal dysplasia 1 AR
IFT140 614620 Mainzer-Saldino syndrome; retinitis pigmentosa type 80 AR
IFT172 607386 Short-rib thoracic dysplasia 10 with or without polydactyly AR
IFT27 615870 Bardet-Biedl syndrome 19 AR
IFT43 614068 Cranioectodermal dysplasia 3 AR
IFT80 611177 AR
IL11RA 600939 Craniosynostosis and dental anomalies AR
INPP5E 613037 Joubert syndrome 1; Mental retardation, truncal obesity, retinal dystrophy, and micropenis AR
INPPL1 600829 Opsismodysplasia AR
IRF6 607199 van der Woude syndrome; Popliteal pterygium syndrome; susceptibility to orofacial cleft type 6 AD
ITGB4 147557 Epidermolysis bullosa simplex, Weber-Cockayne type; junctional epidermolysis bullosa, non-Herlitz type; epidermolysis bullosa with pyloric atresia AD, AR
KAT6B 605880 Ohdo syndrome, SBBYS variant; Genitopatellar syndrome AD
KATNB1 602703 lissencephaly 6 AR
KBTBD13 613727 Nemaline Myopathy 6 AD
KDM5C 314690 syndromic mental retardation - Claes-Jensen type XLR
KDM6A 300128 Kabuki syndrome 2 XLD
KIF11 148760 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation AD
KIF2A 602591 Cortical dysplasia, complex, with other brain malformations 3 AD
KIF5C 604593 Cortical dysplasia, complex, with other brain malformations 2 AD
KIF7 611254 Acrocallosal syndrome; Joubert syndrome 12; Hydrolethalus syndrome 2 AR
KIT 164920 Mast cell disease; Piebaldism; Spermatocytic seminoma, somatic; acute myeloid leukemia; gastrointestinal stromal tumor AD
KLHL40 615340 Nemaline myopathy 8, autosomal recessive AR
KLHL41 607701 Nemaline myopathy 9 AR
KMT2A 159555 Wiedemann-Steiner syndrome AD
KMT2D 602113 Kabuki syndrome 1 AD
KNL1 609173 primary microcephaly 4 AR
KRAS 190070 Arteriovenous malformations of the brain; Bladder Cancer; familial breast-ovarian cancer type 2; Gastric Cancer, Hereditary Diffuse; Schimmelpenning-Feuerstein-Mims Syndrome; Lung Cancer; Pancreatic Cancer; acute myeloid leukemia; Noonan syndrome 3; Autoimmune lymphoproliferative syndrome type IV; Cardiofaciocutaneous syndrome 2 AD
KRIT1 604214 Cerebral Cavernous Malformations type 1 AD
L1CAM 308840 spastic paraplegia type 1; partial agenesis of the corpus callosum; hydrocephalus with stenosis of the aqueduct of Sylvius XLR
LAMA2 156225 congenital muscular dystrophy type 1A; limb-girdle Muscular dystrophy type 23 AR
LAMA3 600805 junctional epidermolysis bullosa, non-Herlitz type; junctional epidermolysis bullosa, Herlitz-type; laryngoonychocutaneous syndrome AR
LAMB1 150240 lissencephaly 5 AR
LAMB3 150310 amelogenesis imperfecta type IA; junctional epidermolysis bullosa, non-Herlitz type; junctional epidermolysis bullosa, Herlitz-type AD, AR
LAMC2 150292 junctional epidermolysis bullosa, non-Herlitz type; junctional epidermolysis bullosa, Herlitz-type AR
LARGE1 603590 congenital muscular dystrophy-dystroglycanopathy with mental retardation type B6; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6 AR
LBR 600024 Pelger-Huet anomaly; Greenberg skeletal dysplasia AD, AR
LEFTY2 601877
LEP 164160 Leptin deficiency AR
LEPR 601007 Morbid obesity due to leptin receptor deficiency AR
LIFR 151443 Stuve-Wiedemann syndrome AR
LMNA 150330 dilated cardiomyopathy-1A; Lipodystrophy, familial partial, 2; Hutchinson-Gilford progeria; limb-girdle muscular dystrophy type 1B; Emery-Dreifuss muscular dystrophy 2; Malouf syndrome; Mandibuloacral dysplasia; Restrictive dermopathy, lethal; type 2B1 Charcot-Marie-Tooth disease; Heart-hand syndrome, Slovenian type; Muscular dystrophy, congenital; Emery-Dreifuss muscular dystrophy 3, AR AD, AR
LMOD3 616112 Nemaline myopathy 10 AR
LMX1B 602575 Nail-patella syndrome AD
LOX 153455 thoracic aortic aneurysm type 10 AD
LRP2 600073 Donnai-Barrow syndrome AR
LRP5 603506 Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus; OSTEOPOROSIS; Osteoporosis-pseudoglioma syndrome; Exudative vitreoretinopathy 4; Bone Mineral Density Quantitative Trait Locus 1; autosomal dominant osteopetrosis type 1; van Buchem disease, type 2 AD, AR
LRRC6 614930 Ciliary dyskinesia, primary, 19 AR
LZTFL1 606568 Bardet-Biedl syndrome 17 AR
LZTR1 600574 Noonan syndrome type 2; SCHWANNOMATOSIS 2; Noonan syndrome 10 AD, AR
MAB21L2 604357 Microphthalmia, syndromic 14 AD, AR
MAGEL2 605283 Schaaf-Yang syndrome AD
MAP2K1 176872 Cardiofaciocutaneous syndrome 3 AD
MAP2K2 601263 Cardiofaciocutaneous syndrome 4 AD
MASP1 600521 3MC syndrome 1 AR
MAT2A 601468
MATN3 602109 Epiphyseal dysplasia, multiple, 5 AD, AR
MBTPS2 300294 IFAP syndrome with or without BRESHECK syndrome; Keratosis follicularis spinulosa decalvans, X-linked XLR
MCPH1 607117 primary microcephaly 1 AR
MED12 300188 Opitz-Kaveggia syndrome /FG syndrome-1; Lujan-Fryns syndrome XLR
MED17 603810 postnatal progressive microcephaly, seizures, and brain atrophy AR
MEGF8 604267 Carpenter syndrome 2 AR
MEIS2 601740 Cleft palate, cardiac defects, and mental retardation AD
MEOX1 600147 Klippel-Feil syndrome 2 AR
MFAP5 601103 AD
MFRP 606227 Nanophthalmos 2; isolated microphthalmia 5 AR
MFSD2A 614397 Microcephaly 15, primary, autosomal recessive AR
MITF 156845 Albinism, Ocular, With Sensorineural Deafness; Tietz Syndrome; Waardenburg syndrome type 2A; Melanoma, Cutaneous Malignant, Susceptibility To, 8 AD, AR
MKKS 604896 McKusick-Kaufman syndrome; Bardet-Biedl syndrome type 6 AR
MKS1 609883 Meckel syndrome type 1; Bardet-Biedl syndrome type 13; Joubert syndrome type 28 AR
MMP13 600108 Metaphyseal dysplasia, Spahr type; Spondyloepimetaphyseal dysplasia, Missouri type AD, AR
MMP21 608416 Heterotaxy, visceral, 7, autosomal AR
MMP9 120361 Metaphyseal anadysplasia 2
MSMO1 607545 Microcephaly, congenital cataract, and psoriasiform dermatitis AR
MSX1 142983 Tooth Agenesis, Selective, 1; Witkop Syndrome; Orofacial cleft 5 AD
MSX2 123101 Parietal foramina 1; Parietal foramina with cleidocranial dysplasia; Craniosynostosis, type 2 AD
MTM1 300415 X-linked myotubular myopathy XLR
MUSK 601296 Fetal akinesia deformation sequence; myasthenic syndrome, congenital type 9, associated with acetylcholine receptor deficiency AR
MYBPC1 160794 Arthrogryposis, distal, type 1B; Lethal congenital contracture syndrome 4 AD, AR
MYCN 164840 Feingold syndrome AD
MYH11 160745 familial thoracic aortic aneurysm 4 AD
MYH2 160740 Inclusion body myopathy 3, autosomal dominant AD, AR
MYH3 160720 distal arthrogryposis type 2A; Distal arthrogryposis type 2B3 (Sheldon-Hall) AD, AR
MYH8 160741 distal arthrogryposis type 7; Carney complex variant AD
MYLK 600922 Aortic aneurysm, familial thoracic 7 AD, AR
MYO18B 607295 Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism AR
MYO7A 276903 Usher syndrome type 1B; deafness type 2; autosomal dominant deafness type 11 AD, AR
NAA10 300013 Ogden syndrome; Microphthalmia, syndromic 1 XL, XLD, XLR
NALCN 611549 Hypotonia, infantile, with psychomotor retardation and characteristic facies; Congenital contractures of the limbs and face, hypotonia, and developmental delay AD, AR
NDE1 609449 lissencephaly 4 AR
NDP 300658 Exudative Vitreoretinopathy 2, X-Linked; Norrie disease XLD, XLR
NEB 161650 nemaline myopathy type 2 AR
NECTIN1 600644 Cleft lip/palate ectodermal dysplasia syndrome AR
NEK1 604588 Short-rib thoracic dysplasia 6 with or without polydactyly AD, AR, DiR
NEK8 609799 nephronophthisis 9; Renal-hepatic-pancreatic dysplasia 2 AR
NF1 613113 neurofibromatosis type 1; Neurofibromatosis-Noonan syndrome; Leukemia, juvenile myelomonocytic AD
NF2 607379 neurofibromatosis type 2; Schwannomatosis; Meningioma, familial, susceptibility to AD
NHEJ1 611290 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
NIPBL 608667 Cornelia de Lange syndrome 1 AD
NKX2-5 600584 Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects; Tetralogy of Fallot; Conotruncal Heart Malformations; Hypothyroidism, Congenital, Nongoitrous, 5; Ventricular septal defect 3; Hypoplastic left heart syndrome 2 AD
NKX3-2 602183 Spondylo-megaepiphyseal-metaphyseal dysplasia AR
NME8 607421 Ciliary dyskinesia, primary, 6 AR
NODAL 601265 Heterotaxy, visceral, 5, autosomal AD
NOG 602991 proximal symphalangism 1A AD
NOTCH1 190198 aortic valve disease type 1; Adams-Oliver syndrome 5 AD
NPHP1 607100 nephronophthisis 1; Joubert syndrome 4 AR
NPHP3 608002 Renal-hepatic-pancreatic dysplasia 1; Meckel syndrome 7; nephronophthisis 3 AR
NR0B2 604630 OBESITY AD, AR
NRAS 164790 colorectal cancer; Melanocytic nevus syndrome, congenital, somatic; Nevus, Epidermal; Schimmelpenning-Feuerstein-Mims Syndrome; Thyroid Carcinoma, Follicular; Neurocutaneous melanosis, somatic; Noonan syndrome 6; Autoimmune lymphoproliferative syndrome type IV AD
NRG1 142445
NSDHL 300275 CK syndrome; CHILD syndrome XLD, XLR
OCRL 300535 Dent disease type 2; Lowe oculocerebrorenal syndrome XLR
OFD1 300170 Simpson-Golabi-Behmel syndrome type 2; Retinitis pigmentosa 23; Joubert syndrome 10; oral-facial-digital syndrome 1 XLD, XLR
ORC1 601902 Meier-gorlin syndrome 1 AR
OTX2 600037 Microphthalmia, syndromic 5; Pituitary hormone deficiency, combined, 6 AD
P3H1 610339 osteogenesis imperfecta type 8 AR
PAFAH1B1 601545 lissencephaly type 1 AD
PAX2 167409 Papillorenal syndrome AD
PAX3 606597 Waardenburg syndrome, type 3; Waardenburg syndrome type 1 AD, AR
PAX6 607108 Aniridia 1; foveal hypoplasia type 1 AD
PCNT 605925 microcephalic osteodysplastic primordial dwarfism type 2 AR
PDCD10 609118 Cerebral cavernous malformations 3
PDE6D 602676 Joubert syndrome 22 AR
PEX7 601757 Rhizomelic chondrodysplasia punctata type 1; peroxisome biogenesis disorder type 9B (Zellweger) AR
PHC1 602978 primary microcephaly 11 AR
PHEX 300550 X-linked dominant hypophosphatemic rickets XLD
PHF6 300414 Borjeson-Forssman-Lehmann syndrome XLR
PIEZO2 613629 Arthrogryposis, distal, type 5; Marden-Walker syndrome; Arthrogryposis, distal, with impaired proprioception and touch AD, AR
PIGV 610274 Hyperphosphatasia with mental retardation syndrome type 1 AR
PITX2 601542 Axenfeld-Rieger syndrome, type 1 AD
PKD1L1 609721 Visceral heterotaxy type 8 AR
PKD2 173910 polycystic kidney disease type 2 AD
PKHD1 606702 polycystic kidney disease type 4 with or without polycystic liver disease AR
PLK4 605031 autosomal recessive microcephaly and chorioretinopathy, 2 AR
PLOD1 153454 Ehlers-Danlos syndrome kyphoscoliotic type 1 AR
PLOD2 601865 Bruck syndrome 2 AR
PMM2 601785 congenital disorder of glycosylation type 1a AR
PNKP 605610 type 2B2 Charcot-Marie-Tooth disease; early infantile epileptic encephalopathy 10 AR
PNPLA6 603197 Boucher-Neuhauser syndrome; spastic paraplegia 39 AR
POMC 176830 OBESITY; Proopiomelanocortin Deficiency AD, AR
POMGNT1 606822 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3; congenital muscular dystrophy-dystroglycanopathy with mental retardation type B3; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C3; retinitis pigmentosa type 76 AR
POMGNT2 614828 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8 AR
POMK 615247 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies A12; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type C12 AR
POMT1 607423 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C1; congenital muscular dystrophy-dystroglycanopathy with mental retardation type B1 AR
POMT2 607439 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2; congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C2 AR
POR 124015 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency AR
PPARG 601487 noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; OBESITY; Lipodystrophy, familial partial, type 3 AD, AR
PPIB 123841 osteogenesis imperfecta type 9 AR
PQBP1 300463 Renpenning Syndrome 1 XLR
PRDM5 614161 Brittle Cornea Syndrome 2 AR
PRKAR1A 188830 Acrodysostosis 1 With Or Without Hormone Resistance; Carney complex, type 1; Myxoma, intracardiac; Pigmented nodular adrenocortical disease, primary, 1 AD
PRKG1 176894 familial thoracic aortic aneurysm type 8 AD
PROM1 604365 Stargardt disease 4; Macular dystrophy, retinal, 2; Retinitis pigmentosa 41; Cone-rod dystrophy 12 AD, AR
PRPH2 179605 Retinitis punctata albescens; Patterned dystrophy of retinal pigment epithelium (macular dystrophy); Retinitis pigmentosa 7; vitelliform macular dystrophy-3; Choriodal dystrophy, central areolar 2 AD, AR
PRSS56 613858 isolated microphthalmia 6 AR
PTCH1 601309 Gorlin syndrome; Holoprosencephaly-7 AD
PTH1R 168468 primary failure of tooth eruption; Metaphyseal chondrodysplasia, Murk Jansen type; Chondrodysplasia, Blomstrand type; Eiken syndrome AD, AR
PTPN11 176876 LEOPARD syndrome 1; Noonan syndrome 1; Leukemia, juvenile myelomonocytic AD
PYCR1 179035 autosomal recessive cutis laxa type 2B AR
PYCR2 616406 hypomyelinating leukodystrophy-10 AR
QARS1 603727 Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy AR
RAB18 602207 Warburg micro syndrome 3 AR
RAB23 606144 Carpenter syndrome AR
RAB3GAP1 602536 Warburg micro syndrome 1 AR
RAB3GAP2 609275 Martsolf syndrome; Warburg micro syndrome 2 AR
RAD21 606462 Cornelia de Lange syndrome type 4 AD, AR
RAF1 164760 Noonan syndrome 5; Cardiomyopathy, dilated, 1NN AD
RAPSN 601592 congenital myasthenic syndrome, type 11, associated with acetylcholine receptor deficiency AR
RARB 180220 syndromic microphthalmia, type 12 AD, AR
RARS2 611524 pontocerebellar hypoplasia type 6 AR
RASA1 139150 Capillary malformation-arteriovenous malformation AD
RASA2 601589
RAX 601881 isolated microphthalmia 3 AR
RBBP8 604124 Jawad syndrome / Microcephaly with mental retardation and digital anomalies; Seckel syndrome 2 AR
RBP4 180250 Retinal dystrophy, iris coloboma, and comedogenic acne syndrome AD, AR
RDH5 601617 Retinitis punctata albescens AD, AR
RELN 600514 lissencephaly 2; familial temporal lobe epilepsy, 7 AD, AR
RET 164761 Hirschsprung disease; familial medullary thyroid carcinoma; multiple endocrine neoplasia 2B; pheochromocytoma; multiple endocrine neoplasia 2A; congenital central hypoventilation syndrome AD
RHO 180380 Retinitis punctata albescens; Night blindness, congenital stationary, autosomal dominant 1; Retinitis Pigmentosa 4 AD, AR
RIN2 610222 MACS syndrome AR
RIT1 609591 Noonan syndrome 8 AD
RLBP1 180090 Retinitis punctata albescens AD, AR
ROR2 602337 Brachydactyly, type B1; Robinow syndrome, autosomal recessive AD, AR
RPGRIP1L 610937 COACH syndrome; Joubert syndrome 7; Meckel syndrome type 5 AR
RPL10 312173 Autism, susceptibility to, X-linked 5 XLR
RPS6KA3 300075 MENTAL RETARDATION, X-LINKED 19; Coffin-Lowry syndrome XLD
RSPH1 609314 primary ciliary dyskinesia, 24 AR
RSPH4A 612647 Ciliary dyskinesia, primary, 11
RSPH9 612648 Ciliary dyskinesia, primary, 12
RUNX2 600211 Cleidocranial dysplasia AD
RXYLT1 605862 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies A10 AR
RYR1 180901 central core disease; malignant hyperthermia; minicore myopathy with external ophthalmoplegia AD, AR
SALL1 602218 Townes-Brocks syndrome AD
SALL2 602219 AR
SALL4 607343 Okihiro syndrome AD
SASS6 609321 autosomal recessive primary microcephaly, 14 AR
SATB2 608148 SATB2-associated syndrome (SAS) :Glass syndrome AD
SBDS 607444 Shwachman-Bodian-Diamond syndrome; Aplastic Anemia AR
SCN4A 603967 Paramyotonia congenita; Hyperkalemic periodic paralysis, type 2; Atypical myotonia congenita, acetazolamide-responsive; Hypokalemic periodic paralysis, type 2; Myasthenic syndrome, acetazolamide-responsive AD, AR
SDCCAG8 613524 Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 AR
SELENON 606210 Myopathy, congenital, with fiber-type disproportion; rigid spine syndrome AD, AR
SEPSECS 613009 pontocerebellar hypoplasia type 2D AR
SERPINF1 172860 osteogenesis imperfecta type 6 AR
SERPINH1 600943 Preterm premature rupture of the membranes, susceptibility to; osteogenesis imperfecta type 10 AR
SHH 600725 Holoprosencephaly 3; Solitary Median Maxillary Central Incisor; Schizencephaly; Microphthalmia, Isolated, With Coloboma 5 AD
SHOC2 602775 Noonan Syndrome-Like Disorder With Loose Anagen Hair AD
SHROOM4 300579 Stocco dos Santos X-linked mental retardation syndrome XL
SIX3 603714 Holoprosencephaly 2; Schizencephaly AD
SIX6 606326 Microphthalmia with cataract 2 AR
SKI 164780 Shprintzen-Goldberg Craniosynostosis Syndrome AD
SLC25A19 606521 Microcephaly, Amish type; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) AR
SLC26A2 606718 Diastrophic dysplasia; multiple epiphyseal dysplasia type 4; Atelosteogenesis type II; Achondrogenesis type IB AR
SLC2A10 606145 arterial tortuosity syndrome AR
SLC34A3 609826 Hypophosphatemic rickets with hypercalciuria AR
SLC35D1 610804 Schneckenbecken dysplasia AR
SLC39A13 608735 Ehlers-Danlos syndrome spondylodysplastic type 3 AR
SLC5A7 608761 Neuronopathy, distal hereditary motor, type VIIA; Myasthenic syndrome, congenital, 20, presynaptic AD, AR
SLC9A6 300231 Christianson type of X-linked syndromic mental retardation XLD
SMAD2 601366
SMAD3 603109 Loeys-Dietz syndrome 3 AD
SMAD4 600993 Myhre syndrome; Juvenile polyposis syndrome, infantile form; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Pancreatic Cancer AD
SMAD6 602931 Aortic valve disease 2; Craniosynostosis type 7 AD
SMARCA2 600014 Nicolaides-Baraitser syndrome AD
SMARCA4 603254 Rhabdoid tumor predisposition syndrome 2; mental retardation-16 AD
SMARCB1 601607 Schwannomatosis; Rhabdoid tumors, somatic; Coffin-Siris syndrome 3 AD
SMARCE1 603111 Meningioma, familial, susceptibility to AD
SMC1A 300040 Cornelia de Lange syndrome 2 XLD
SMC3 606062 Cornelia de Lange syndrome 3 AD
SMCHD1 614982 Fascioscapulohumeral muscular dystrophy 2, digenic AD
SMOC1 608488 AR
SNAI2 602150 Piebaldism; Waardenburg syndrome type 2d AD, AR
SOS1 182530 Noonan syndrome 4 AD
SOS2 601247 Noonan syndrome type 9 AD
SOX10 602229 PCWH syndrome; Waardenburg syndrome type 2E; Waardenburg syndrome, type 4C AD
SOX2 184429 Microphthalmia, Syndromic 3 AD
SOX9 608160 campomelic dysplasia AD
SP7 606633 osteogenesis imperfecta type 12 AR
SPAG1 603395 Primary Ciliary dyskinesia type 28 AR
SPRED1 609291 Legius syndrome AD
STAMBP 606247 Microcephaly-capillary malformation syndrome AR
STIL 181590 primary microcephaly 7 AR
STRA6 610745 Microphthalmia, isolated, with coloboma 8 AR
SUMO1 601912
TAF6 602955 Alazami-Yuan syndrome AR
TBC1D20 611663 Warburg micro syndrome 4 AR
TBC1D24 613577 DOOR syndrome; Myoclonic epilepsy, infantile, familial; Rolandic epilepsy with proxysmal exercise-induced dystonia and writer's cramp; deafness type 86; Epileptic encephalopathy, early infantile, 16; deafness type 65 AD, AR
TBX5 601620 Holt-Oram syndrome AD
TCF12 600480 Craniosynostosis 3 AD
TCF4 602272 Pitt-Hopkins syndrome AD
TCTN1 609863 Joubert syndrome 13 AR
TCTN2 613846 Meckel syndrome 8; Joubert syndrome type 24 AR
TCTN3 613847 oral-facial-digital syndrome 4; Joubert syndrome 18 AR
TENM3 610083 microphthalmia with coloboma 9 AR
TFAP2A 107580 Branchiooculofacial syndrome AD
TGFB2 190220 Loeys-Dietz syndrome 4 AD
TGFB3 190230 Arrhythmogenic right ventricular dysplasia 1; Loeys-Dietz syndrome 5 AD
TGFBR1 190181 Multiple Self-Healing Squamous Epithelioma, Susceptibility To; Loeys-Dietz syndrome 1 AD
TGFBR2 190182 Esophageal cancer, somatic; Loeys-Dietz syndrome 2; Colorectal cancer, hereditary nonpolyposis, type 6 AD
TGIF1 602630 Holoprosencephaly-4 AD
TK2 188250 mitochondrial DNA depletion syndrome 2 AR
TMEM138 614459 Joubert syndrome 16 AR
TMEM216 613277 Meckel Syndrome type 2; Joubert syndrome type 2 AR
TMEM231 614949 Joubert syndrome 20; Meckel syndrome, type 11 AR
TMEM237 614423 Joubert syndrome 14 AR
TMEM67 609884 COACH syndrome; Meckel Syndrome, Type 3; Joubert syndrome 6; nephronophthisis 11; Bardet-Biedl syndrome type 14 AR
TNFRSF11B 602643 Paget disease of bone 5, juvenile-onset AR
TNNI2 191043 distal arthrogryposis type 2B AD
TNNT1 191041 Nemaline myopathy 5, Amish type AR
TNNT3 600692 AD
TNXB 600985 classic-like Ehlers-Danlos syndrome; Vesicoureteral reflux type 8 AD, AR
TOR1A 605204 dystonia 1 AD
TP63 603273 ADULT syndrome; Hay-Wells syndrome; Rapp-Hodgkin syndrome; Limb-mammary syndrome; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3; Split-hand/foot malformation 4 AD
TPM2 190990 Nemaline myopathy type 4, autosomal dominant AD
TPM3 191030 Myopathy, congenital, with fiber-type disproportion; Nemaline myopathy 1, autosomal dominant or recessive AD, AR
TRIM32 602290 limb-girdle muscular dystrophy type 2H; Bardet-Biedl syndrome 11 AR
TRIP11 604505 Achondrogenesis, type IA AR
TRMT10A 616013 Microcephaly, short stature, and impaired glucose metabolism 1 AR
TRPS1 604386 trichorhinophalangeal syndrome 1 AD
TRPV4 605427 Brachyolmia type 3; Metatropic dysplasia; Spondylometaphyseal dysplasia, Kozlowski type; Hereditary motor and sensory neuropathy, type IIc AD
TSC1 605284 tuberous sclerosis type 1 AD
TSC2 191092 tuberous sclerosis-2 AD
TSEN2 608753 pontocerebellar hypoplasia type 2B AR
TSEN54 608755 pontocerebellar hypoplasia type 4; pontocerebellar hypoplasia type 2A; pontocerebellar hypoplasia type 5 AR
TTC21B 612014 Short-rib thoracic dysplasia 4 with or without polydactyly; nephronophthisis 12 AD, AR
TTC8 608132 retinitis pigmentosa type 51; Bardet-Biedl syndrome type 8 AR
TUBA1A 602529 lissencephaly 3 AD
TUBA8 605742 Polymicrogyria with optic nerve hypoplasia AR
TUBB 191130 Cortical dysplasia, complex, with other brain malformations 6 AD
TUBB2A 615101 Cortical dysplasia, complex, with other brain malformations 5 AD
TUBB2B 612850 Polymicrogyria, symmetric or asymmetric AD
TUBB3 602661 Fibrosis of extraocular muscles, congenital, 3A; Cortical dysplasia, complex, with other brain malformations AD
TUBG1 191135 Cortical dysplasia, complex, with other brain malformations 4 AD
TUBGCP4 609610 AR
TUBGCP6 610053 Microcephaly and chorioretinopathy with or without mental retardation AR
TWIST1 601622 Saethre-Chotzen Syndrome; Craniosynostosis 1; Robinow-Sorauf syndrome AD
TYR 606933 Albinism, Ocular, With Sensorineural Deafness; oculocutaneous albinism type 1A; Skin/hair/eye pigmentation 3; Albinism, oculocutaneous, type IB AD, AR
UBA1 314370 X-linked infantile spinal muscular atrophy type 2 XLR
VAMP1 185880 Spastic ataxia 1, autosomal dominant; Myasthenic syndrome, congenital, 25 AD, AR
VIPAS39 613401 Arthrogryposis, renal dysfunction, and cholestasis 2 AR
VLDLR 192977 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome AR
VPS13B 607817 Cohen syndrome AR
VPS53 615850 pontocerebellar hypoplasia type 2E AR
VRK1 602168 pontocerebellar hypoplasia type 1A AR
VSX2 142993 microphthalmia with coloboma 3; isolated microphthalmia 2
WDPCP 613580 Bardet-Biedl syndrome 15 AR
WDR19 608151 Short-rib thoracic dysplasia 5 with or without polydactyly; nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8 AR
WDR35 613602 Cranioectodermal dysplasia 2 AR
WDR62 613583 primary microcephaly 2 AR
WNT1 164820 osteogenesis imperfecta type 15; susceptibility to early-onset autosomal dominant osteoporosis AR
WNT5A 164975 Robinow syndrome, autosomal dominant AD
WNT7A 601570 Fuhrmann syndrome; Ulna and fibula, absence of, with sever limb deficiency AR
YWHAE 605066
ZEB2 605802 Mowat-Wilson syndrome AD
ZIC2 603073 Holoprosencephaly 5 AD
ZIC3 300265 Heterotaxy, visceral, 1, x-linked; Vacterl association, x-linked, with or without hydrocephalus XLR
ZMYND10 607070 primary ciliary dyskinesia, 22 AR
ZNF335 610827 primary microcephaly 10 AR
ZNF423 604557 nephronophthisis 14; Joubert syndrome 19 AD, AR
ZNF469 612078 Brittle cornea syndrome AR

COMMON SYNDROMES AND DISORDERS COVERED

Bardet-Biedl syndrome
Cardiofaciocutaneous syndrome
Cerebral cavernous malformations
Ciliopathies
Cleft lip and palate
Coffin-Siris syndrome
Cornelia de Lange syndrome
Ciliopathic skeletal dysplasias
Craniosynostosis and craniofacial disorders
Heterotaxy syndrome
Hirschsprung disease
Holoprosencephaly
Klippel-Feil syndrome
Lissencephaly and brain malformation
Meckel syndrome
Metaphyseal dysplasia
Micro syndrome
Microphthalmia/anophthalmia/coloboma spectrum
Multiple epiphyseal dysplasia
Neurofibromatosis
Noonan syndrome
Seckel syndrome
Skeletal dysplasia extended
Stickler syndrome
Tuberous sclerosis
Waardenburg syndrome

Ciliopathies panel

Our ciliopathies panel includes a group of disorders causing cilia dysfunction, including Joubert Syndrome, Bardet- Biedl, COACH syndrome, primary ciliary dyskinesia, Meckel syndrome, skeletal dysplasia, situs inversus, and heterotaxy, among others. If polycystic kidney disease is suspected, CentoNephro Plus is recommended, which includes PKD1 analysis.

No. of genes:194
TAT:25 days
Coverage:≥99.5% ≥20x
Details:

CNV analysis included


Gene OMIM (Gene) Associated diseases (OMIM) Inheritance
ACVR2B 602730 Heterotaxy, visceral, 4, autosomal
AGPS 603051 rhizomelic chondrodysplasia punctata type 3 AR
AHI1 608894 Joubert syndrome 3 AR
ALPL 171760 adult hypophosphatasia; infantile hypophosphatasia; childhood-onset hypophosphatasia AD, AR
ANKH 605145 Chondrocalcinosis 2; Craniometaphyseal dysplasia AD
ANO5 608662 gnathodiaphyseal dysplasia; limb-girdle muscular dystrophy type 2L AD, AR
ARHGAP31 610911 Adams-Oliver syndrome 1 AD
ARL13B 608922 Joubert syndrome 8 AR
ARL6 608845 Bardet-Biedl syndrome type 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 AR, DiR
ARMC4 615408 primary ciliary dyskinesia, 23 AR
ARSL 300180 Chondrodysplasia punctata, X-linked recessive XLR
ATR 601215 Seckel syndrome 1; ?Cutaneous telangiectasia and cancer syndrome, familial AD, AR
B9D1 614144 Meckel Syndrome, Type 9 AR
B9D2 611951 Meckel syndrome 10 AR
BBS1 209901 Bardet-Biedl syndrome type 1 AR, DiR
BBS10 610148 Bardet-Biedl syndrome type 10 AR
BBS12 610683 Bardet-Biedl syndrome type 12 AR
BBS2 606151 Bardet-Biedl syndrome type 2; retinitis pigmentosa type 74 AR
BBS4 600374 Bardet-Biedl syndrome 4 AR
BBS5 603650 Bardet-Biedl syndrome 5 AR
BBS7 607590 Bardet-Biedl syndrome type 7 AR
BBS9 607968 Bardet-Biedl syndrome type 9 AR
BMP1 112264 osteogenesis imperfecta type 13 AR
BMPR1B 603248 Brachydactyly type A2; Chondrodysplasia, Acromesomelic, With Genital Anomalies AD, AR
C8orf37 614477 Cone-rod dystrophy 16; Bardet-Biedl syndrome type 21 AR
CANT1 613165 Desbuquois dysplasia type 1 AR
CASR 601199 Hypocalciuric hypercalcemia, type I; Hyperparathyroidism, neonatal; Hypocalcemia, autosomal dominant, with Bartter syndrome; Epilepsy idiopathic generalized, susceptibility to, 8 AD, AR
CC2D2A 612013 COACH syndrome; Meckel syndrome 6; Joubert syndrome 9 AR
CCDC103 614677 Ciliary dyskinesia, primary, 17 AR
CCDC114 615038 Ciliary dyskinesia, primary, 20 AR
CCDC151 615956 primary Ciliary dyskinesia type 30 AR
CCDC28B 610162 Bardet-Biedl syndrome type 1 AR, DiR
CCDC39 613798 Ciliary dyskinesia, primary, 14
CCDC40 613799 Ciliary dyskinesia, primary, 15
CCDC65 611088 Ciliary dyskinesia, primary, 27 AR
CCNO 607752 primary ciliary dyskinesia type 29 AR
CDKN1C 600856 Beckwith-Wiedemann syndrome; IMAGE syndrome AD
CENPF 600236 Stromme syndrome AR
CENPJ 609279 primary microcephaly 6; Seckel syndrome 4 AR
CEP152 613529 Seckel syndrome 5; primary microcephaly 9 AR
CEP164 614848 nephronophthisis 15 AR
CEP290 610142 Joubert syndrome type 5; Senior-Loken syndrome type 6; Meckel syndrome type 4; Leber congenital amaurosis type 10; Bardet-Biedl syndrome type 14 AR
CEP41 610523 Joubert syndrome 15 AR
CEP63 614724 Seckel syndrome 6 AR
CFAP298 615494 primary ciliary dyskinesia type 26 AR
CFAP53 614759 Heterotaxy, visceral, 6, autosomal recessive AR
CFC1 605194 Heterotaxy, visceral, 2, autosomal AD
CHSY1 608183 AR
CILK1 612325 AD, AR
CLCN5 300008 Dent disease; Hypophosphatemic rickets; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis; Nephrolithiasis, type I XLR
COL10A1 120110 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE AD
COL9A3 120270 multiple epiphyseal dysplasia type 3 AD
COMP 600310 Epiphyseal Dysplasia, Multiple, 1; Pseudoachondroplasia AD
CPLANE1 614571 oral-facial-digital syndrome 6; Joubert syndrome 17 AR
CRELD1 607170 Atrioventricular septal defect, partial, with heterotaxy syndrome AD
CRTAP 605497 osteogenesis imperfecta type 7 AR
CSPP1 611654 Joubert syndrome 21 AR
DDR2 191311 Spondylometaepiphyseal dysplasia, short limb-hand type AD, AR
DHCR7 602858 Smith-Lemli-Opitz syndrome AR
DMP1 600980 Hypophosphatemic Rickets, Autosomal Recessive, 1 AR
DNAAF1 613190 Ciliary dyskinesia, primary, 13 AR
DNAAF2 612517 Ciliary dyskinesia, primary, 10
DNAAF3 614566 Ciliary dyskinesia, primary, 2 AR
DNAAF4 608706 Ciliary dyskinesia, primary, 25 AD, AR
DNAAF5 614864 Ciliary dyskinesia, primary, 18 AR
DNAH11 603339 primary ciliary dyskinesia type 7, with or without situs inversus AR
DNAH5 603335 primary ciliary dyskinesia type 3, with or without situs inversus
DNAI1 604366 primary ciliary dyskinesia type 1, with or without situs inversus AR
DNAI2 605483 primary ciliary dyskinesia type 9, with or without situs inversus
DNAL1 610062 Ciliary dyskinesia, primary, 16 AR
DRC1 615288 primary ciliary dyskinesia, 21 AR
DYM 607461 Dyggve-Melchior-Clausen disease AR
DYNC2H1 603297 short-rib thoracic dysplasia-3 with or without polydactyly AR, DiR
DYNC2I1 615462 Short-rib thoracic dysplasia 8 with or without polydactyly AR
DYNC2I2 613363 Short-rib thoracic dysplasia 11 with or without polydactyly AR
EBP 300205 MEND syndrome; Chondrodysplasia punctata, X-linked dominant XLD, XLR
EIF2AK3 604032 Wolcott-Rallison syndrome AR
ENPP1 173335 noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Arterial calcification, generalized, of infancy, 1; OBESITY; Hypophosphatemic rickets, autosomal recessive, 2; Cole disease AD, AR
ESCO2 609353 Roberts syndrome AR
EVC 604831 Weyers acrofacial dysostosis; Ellis-van Creveld syndrome AD, AR
EVC2 607261 Weyers acrofacial dysostosis; Ellis-van Creveld syndrome AD, AR
FGF23 605380 Hypophosphatemic rickets, autosomal dominant AD, AR
FKBP10 607063 Bruck syndrome 1; osteogenesis imperfecta type 11 AR
FLNB 603381 Atelosteogenesis, type i; Atelosteogenesis, type iii; Boomerang dysplasia; Larsen syndrome; Spondylocarpotarsal synostosis syndrome AD, AR
GDF1 602880 Right atrial isomerism; Transposition of the great arteries, dextro-looped 3 AD, AR
GDF5 601146 Brachydactyly type A2; Brachydactyly type C; Grebe type chondrodysplasia; Hunter-Thompson type of acromesomelic dysplasia; Du Pan syndrome; multiple synostoses syndrome type 2; susceptibility to osteoarthritis type 5; brachydactyly type A1; proximal symphalangism type 1B AD, AR
GLI2 165230 holoprosencephaly 9; Culler-Jones syndrome AD
GLI3 165240 Pallister-Hall syndrome; Polydactyly, postaxial, types A1 and B; Preaxial polydactyly type IV; Greig cephalopolysyndactyly syndrome AD
GNAS 139320 Pseudohypoparathyroidism Ia; Osseous heteroplasia, progressive; McCune-Albright syndrome, somatic, mosaic; ACTH-independent macronodular adrenal hyperplasia; Pseudohypoparathyroidism type Ib; Pseudohypoparathyroidism Ic; Pseudopseudohypoparathyroidism AD
GNPAT 602744 rhizomelic chondrodysplasia punctata type 2 AR
HEXA 606869 Tay-Sachs disease/ GM2-gangliosidosis AR
HSPG2 142461 Silverman-Handmaker type of dyssegmental dysplasia; Schwartz-Jampel syndrome AR
HYDIN 610812 primary ciliary dyskinesia type 5 AR
HYLS1 610693 Hydrolethalus syndrome AR
IFITM5 614757 osteogenesis imperfecta type 5 AD
IFT122 606045 Cranioectodermal dysplasia 1 AR
IFT140 614620 Mainzer-Saldino syndrome; retinitis pigmentosa type 80 AR
IFT172 607386 Short-rib thoracic dysplasia 10 with or without polydactyly AR
IFT27 615870 Bardet-Biedl syndrome 19 AR
IFT43 614068 Cranioectodermal dysplasia 3 AR
IFT80 611177 AR
INPP5E 613037 Joubert syndrome 1; Mental retardation, truncal obesity, retinal dystrophy, and micropenis AR
INPPL1 600829 Opsismodysplasia AR
KIF7 611254 Acrocallosal syndrome; Joubert syndrome 12; Hydrolethalus syndrome 2 AR
LBR 600024 Pelger-Huet anomaly; Greenberg skeletal dysplasia AD, AR
LEFTY2 601877
LEP 164160 Leptin deficiency AR
LEPR 601007 Morbid obesity due to leptin receptor deficiency AR
LIFR 151443 Stuve-Wiedemann syndrome AR
LRP5 603506 Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus; OSTEOPOROSIS; Osteoporosis-pseudoglioma syndrome; Exudative vitreoretinopathy 4; Bone Mineral Density Quantitative Trait Locus 1; autosomal dominant osteopetrosis type 1; van Buchem disease, type 2 AD, AR
LRRC6 614930 Ciliary dyskinesia, primary, 19 AR
LZTFL1 606568 Bardet-Biedl syndrome 17 AR
MATN3 602109 Epiphyseal dysplasia, multiple, 5 AD, AR
MKKS 604896 McKusick-Kaufman syndrome; Bardet-Biedl syndrome type 6 AR
MKS1 609883 Meckel syndrome type 1; Bardet-Biedl syndrome type 13; Joubert syndrome type 28 AR
MMP13 600108 Metaphyseal dysplasia, Spahr type; Spondyloepimetaphyseal dysplasia, Missouri type AD, AR
MMP21 608416 Heterotaxy, visceral, 7, autosomal AR
MMP9 120361 Metaphyseal anadysplasia 2
MYO7A 276903 Usher syndrome type 1B; deafness type 2; autosomal dominant deafness type 11 AD, AR
NEK1 604588 Short-rib thoracic dysplasia 6 with or without polydactyly AD, AR, DiR
NEK8 609799 nephronophthisis 9; Renal-hepatic-pancreatic dysplasia 2 AR
NKX2-5 600584 Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects; Tetralogy of Fallot; Conotruncal Heart Malformations; Hypothyroidism, Congenital, Nongoitrous, 5; Ventricular septal defect 3; Hypoplastic left heart syndrome 2 AD
NKX3-2 602183 Spondylo-megaepiphyseal-metaphyseal dysplasia AR
NME8 607421 Ciliary dyskinesia, primary, 6 AR
NODAL 601265 Heterotaxy, visceral, 5, autosomal AD
NOG 602991 proximal symphalangism 1A AD
NPHP1 607100 nephronophthisis 1; Joubert syndrome 4 AR
NPHP3 608002 Renal-hepatic-pancreatic dysplasia 1; Meckel syndrome 7; nephronophthisis 3 AR
NR0B2 604630 OBESITY AD, AR
NSDHL 300275 CK syndrome; CHILD syndrome XLD, XLR
OFD1 300170 Simpson-Golabi-Behmel syndrome type 2; Retinitis pigmentosa 23; Joubert syndrome 10; oral-facial-digital syndrome 1 XLD, XLR
P3H1 610339 osteogenesis imperfecta type 8 AR
PDE6D 602676 Joubert syndrome 22 AR
PEX7 601757 Rhizomelic chondrodysplasia punctata type 1; peroxisome biogenesis disorder type 9B (Zellweger) AR
PHEX 300550 X-linked dominant hypophosphatemic rickets XLD
PHF6 300414 Borjeson-Forssman-Lehmann syndrome XLR
PKD1L1 609721 Visceral heterotaxy type 8 AR
PKD2 173910 polycystic kidney disease type 2 AD
PKHD1 606702 polycystic kidney disease type 4 with or without polycystic liver disease AR
PLOD2 601865 Bruck syndrome 2 AR
PMM2 601785 congenital disorder of glycosylation type 1a AR
PNPLA6 603197 Boucher-Neuhauser syndrome; spastic paraplegia 39 AR
POMC 176830 OBESITY; Proopiomelanocortin Deficiency AD, AR
PPARG 601487 noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; OBESITY; Lipodystrophy, familial partial, type 3 AD, AR
PPIB 123841 osteogenesis imperfecta type 9 AR
PRKAR1A 188830 Acrodysostosis 1 With Or Without Hormone Resistance; Carney complex, type 1; Myxoma, intracardiac; Pigmented nodular adrenocortical disease, primary, 1 AD
PROM1 604365 Stargardt disease 4; Macular dystrophy, retinal, 2; Retinitis pigmentosa 41; Cone-rod dystrophy 12 AD, AR
PRPH2 179605 Retinitis punctata albescens; Patterned dystrophy of retinal pigment epithelium (macular dystrophy); Retinitis pigmentosa 7; vitelliform macular dystrophy-3; Choriodal dystrophy, central areolar 2 AD, AR
PTH1R 168468 primary failure of tooth eruption; Metaphyseal chondrodysplasia, Murk Jansen type; Chondrodysplasia, Blomstrand type; Eiken syndrome AD, AR
RBBP8 604124 Jawad syndrome / Microcephaly with mental retardation and digital anomalies; Seckel syndrome 2 AR
RDH5 601617 Retinitis punctata albescens AD, AR
RHO 180380 Retinitis punctata albescens; Night blindness, congenital stationary, autosomal dominant 1; Retinitis Pigmentosa 4 AD, AR
RLBP1 180090 Retinitis punctata albescens AD, AR
ROR2 602337 Brachydactyly, type B1; Robinow syndrome, autosomal recessive AD, AR
RPGRIP1L 610937 COACH syndrome; Joubert syndrome 7; Meckel syndrome type 5 AR
RSPH1 609314 primary ciliary dyskinesia, 24 AR
RSPH4A 612647 Ciliary dyskinesia, primary, 11
RSPH9 612648 Ciliary dyskinesia, primary, 12
RUNX2 600211 Cleidocranial dysplasia AD
SALL1 602218 Townes-Brocks syndrome AD
SALL4 607343 Okihiro syndrome AD
SBDS 607444 Shwachman-Bodian-Diamond syndrome; Aplastic Anemia AR
SDCCAG8 613524 Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 AR
SERPINF1 172860 osteogenesis imperfecta type 6 AR
SERPINH1 600943 Preterm premature rupture of the membranes, susceptibility to; osteogenesis imperfecta type 10 AR
SLC26A2 606718 Diastrophic dysplasia; multiple epiphyseal dysplasia type 4; Atelosteogenesis type II; Achondrogenesis type IB AR
SLC34A3 609826 Hypophosphatemic rickets with hypercalciuria AR
SLC35D1 610804 Schneckenbecken dysplasia AR
SOX9 608160 campomelic dysplasia AD
SPAG1 603395 Primary Ciliary dyskinesia type 28 AR
TBX5 601620 Holt-Oram syndrome AD
TCTN1 609863 Joubert syndrome 13 AR
TCTN2 613846 Meckel syndrome 8; Joubert syndrome type 24 AR
TCTN3 613847 oral-facial-digital syndrome 4; Joubert syndrome 18 AR
TMEM138 614459 Joubert syndrome 16 AR
TMEM216 613277 Meckel Syndrome type 2; Joubert syndrome type 2 AR
TMEM231 614949 Joubert syndrome 20; Meckel syndrome, type 11 AR
TMEM237 614423 Joubert syndrome 14 AR
TMEM67 609884 COACH syndrome; Meckel Syndrome, Type 3; Joubert syndrome 6; nephronophthisis 11; Bardet-Biedl syndrome type 14 AR
TNFRSF11B 602643 Paget disease of bone 5, juvenile-onset AR
TRIM32 602290 limb-girdle muscular dystrophy type 2H; Bardet-Biedl syndrome 11 AR
TRIP11 604505 Achondrogenesis, type IA AR
TRPS1 604386 trichorhinophalangeal syndrome 1 AD
TRPV4 605427 Brachyolmia type 3; Metatropic dysplasia; Spondylometaphyseal dysplasia, Kozlowski type; Hereditary motor and sensory neuropathy, type IIc AD
TTC21B 612014 Short-rib thoracic dysplasia 4 with or without polydactyly; nephronophthisis 12 AD, AR
TTC8 608132 retinitis pigmentosa type 51; Bardet-Biedl syndrome type 8 AR
WDPCP 613580 Bardet-Biedl syndrome 15 AR
WDR19 608151 Short-rib thoracic dysplasia 5 with or without polydactyly; nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8 AR
WDR35 613602 Cranioectodermal dysplasia 2 AR
WNT5A 164975 Robinow syndrome, autosomal dominant AD
WNT7A 601570 Fuhrmann syndrome; Ulna and fibula, absence of, with sever limb deficiency AR
ZIC3 300265 Heterotaxy, visceral, 1, x-linked; Vacterl association, x-linked, with or without hydrocephalus XLR
ZMYND10 607070 primary ciliary dyskinesia, 22 AR
ZNF423 604557 nephronophthisis 14; Joubert syndrome 19 AD, AR

Common syndromes and disorders covered

Bardet-Biedl syndrome
Heterotaxy syndrome
Joubert syndrome
Primary ciliary dyskinesia
Skeletal dysplasia
Skeletal ciliopathy

Connective tissue and related disorders panel

Our connective tissue and related disorders panel provides a profound one-step evaluation of several genes to detect different disorders with similar phenotypes, such as Marfan Syndrome, Loeys-Dietz, cutis laxa, Ehlers-Danlos, Stickler syndrome, and Familial thoracic aortic aneurysm and dissection.

No. of genes: 72
TAT: 25 days
Coverage: ≥99.5% ≥20x
Details:CNV analysis included

Gene OMIM (Gene) Associated diseases (OMIM) Inheritance
ABCC6 603234 Pseudoxanthoma elasticum, forme fruste; Pseudoxanthoma elasticum; generalized arterial calcification of infancy type 2 AD, AR
ACTA2 102620 Aortic aneurysm, familial thoracic 6; Multisystemic smooth muscle dysfunction syndrome; Moyamoya disease 5 AD
ADAMTS2 604539 Ehlers-Danlos syndrome dermatosparaxis type AR
ADAMTSL2 612277 Geleophysic dysplasia 1 AR
ALDH18A1 138250 Cutis laxa, autosomal recessive, type IIIA; Spastic paraplegia 9A, autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 AD, AR
ATP6V0A2 611716 autosomal recessive cutis laxa type IIA; Wrinkly skin syndrome AR
ATP7A 300011 X-linked distal spinal muscular atrophy type 3; Occipital horn syndrome; Menkes disease XLR
B3GALT6 615291 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures; Ehlers-Danlos syndrome spondylodysplastic type 2 AR
B3GAT3 606374 Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects AR
B4GALT7 604327 Ehlers-Danlos syndrome spondylodysplastic type 1 AR
BGN 301870 Meester-Loeys syndrome XL, XLR
CBS 613381 homocystinuria with or without response to pyridoxine AR
CHST14 608429 Ehlers-Danlos syndrome musculocontractural type 1 AR
COL11A1 120280 Marshall syndrome; Fibrochondrogenesis 1; Stickler syndrome 2 AD, AR
COL11A2 120290 Stickler syndrome, type III; Otospondylomegaepiphyseal dysplasia; Deafness, autosomal dominant 13; Deafness, autosomal recessive 53; Fibrochondrogenesis 2 AD, AR
COL12A1 120320 Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 AD
COL1A1 120150 Caffey disease; Ehlers-Danlos syndrome arthrochalasia type 1; osteogenesis imperfecta type 1; osteogenesis imperfecta type 2; osteogenesis imperfecta type 4; OSTEOPOROSIS; osteogenesis imperfecta type 3 AD
COL1A2 120160 osteogenesis imperfecta type 2; osteogenesis imperfecta type 4; OSTEOPOROSIS; Ehlers-Danlos syndrome, cardiac valvular form; osteogenesis imperfecta type 3; Ehlers-Danlos syndrome arthrochalasia type 2 AD, AR
COL2A1 120140 Epiphyseal dysplasia, multiple, with myopia and deafness; Legg-Calve-Perthes disease; Platyspondylic skeletal dysplasia, Torrance type; Kniest dysplasia; congenital spondyloepiphyseal dysplasia; SMED Strudwick type; Achondrogenesis, type II or hypochondrogenesis; Spondyloperipheral dysplasia; Osteoarthritis with mild chondrodysplasia; Avascular necrosis of the femoral head; Czech dysplasia; Stickler syndrome type 1; Stanescu type spondyloepiphyseal dysplasia AD
COL3A1 120180 vascular-type Ehlers-Danlos syndrome AD, AR
COL5A1 120215 Ehlers-Danlos syndrome classic type 1 AD
COL5A2 120190 Ehlers-Danlos syndrome classic type 2 AD
COL9A1 120210 Stickler syndrome, type IV; Epiphyseal dysplasia, multiple, 6 AD
COL9A2 120260 Stickler syndrome, type V AD, AR
COL9A3 120270 multiple epiphyseal dysplasia type 3 AD
CREB3L1 616215 osteogenesis imperfecta type 16 AR
DSE 605942 Ehlers-Danlos syndrome musculocontractural type 2 AR
EFEMP2 604633 Cutis laxa, autosomal recessive, type IB AR
ELN 130160 Cutis laxa, autosomal dominant 1, ADCL1; Supravalvar aortic stenosis AD
FBLN5 604580 Cutis laxa, autosomal recessive, type IA; hereditary neuropathy with or without age-related macular degeneration AD, AR
FBN1 134797 Marfan syndrome; stiff skin syndrome; Weill-Marchesani syndrome 2; geleophysic dysplasia 2; Marfan lipodystrophy syndrome AD
FBN2 612570 congenital contractural arachnodactyly; early-onset macular degeneration AD
FKBP14 614505 Ehlers-Danlos syndrome kyphoscoliotic type 2 AR
FLCN 607273 colorectal cancer; Birt-Hogg-Dube syndrome; Renal carcinoma, chromophobe, somatic; primary spontaneous pneumothorax AD
FLNA 300017 Congenital short bowel syndrome; Heterotopia, periventricular / X-linked periventricular heterotopia; Terminal osseous dysplasia; FG syndrome 2; Otopalatodigital syndrome, type II; Frontometaphyseal dysplasia; Melnick-Needles syndrome; otopalatodigital syndrome type I; Cardiac valvular dysplasia, X-linked XL, XLD, XLR
FOXE3 601094 Anterior segment dysgenesis 2, multiple subtypes; Cataract 34, multiple types AD, AR
GORAB 607983 geroderma osteodysplasticum AR
ITGB4 147557 Epidermolysis bullosa simplex, Weber-Cockayne type; junctional epidermolysis bullosa, non-Herlitz type; epidermolysis bullosa with pyloric atresia AD, AR
KCNJ13 603208 AD, AR
LAMA3 600805 junctional epidermolysis bullosa, non-Herlitz type; junctional epidermolysis bullosa, Herlitz-type; laryngoonychocutaneous syndrome AR
LAMB3 150310 amelogenesis imperfecta type IA; junctional epidermolysis bullosa, non-Herlitz type; junctional epidermolysis bullosa, Herlitz-type AD, AR
LAMC2 150292 junctional epidermolysis bullosa, non-Herlitz type; junctional epidermolysis bullosa, Herlitz-type AR
LOX 153455 thoracic aortic aneurysm type 10 AD
LRP2 600073 Donnai-Barrow syndrome AR
MAT2A 601468
MBTPS2 300294 IFAP syndrome with or without BRESHECK syndrome; Keratosis follicularis spinulosa decalvans, X-linked XLR
MED12 300188 Opitz-Kaveggia syndrome /FG syndrome-1; Lujan-Fryns syndrome XLR
MFAP5 601103 AD
MYH11 160745 familial thoracic aortic aneurysm 4 AD
MYLK 600922 Aortic aneurysm, familial thoracic 7 AD, AR
NOTCH1 190198 aortic valve disease type 1; Adams-Oliver syndrome 5 AD
PLOD1 153454 Ehlers-Danlos syndrome kyphoscoliotic type 1 AR
PRDM5 614161 Brittle Cornea Syndrome 2 AR
PRKG1 176894 familial thoracic aortic aneurysm type 8 AD
PYCR1 179035 autosomal recessive cutis laxa type 2B AR
RIN2 610222 MACS syndrome AR
SKI 164780 Shprintzen-Goldberg Craniosynostosis Syndrome AD
SLC2A10 606145 arterial tortuosity syndrome AR
SLC39A13 608735 Ehlers-Danlos syndrome spondylodysplastic type 3 AR
SMAD2 601366
SMAD3 603109 Loeys-Dietz syndrome 3 AD
SMAD4 600993 Myhre syndrome; Juvenile polyposis syndrome, infantile form; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Pancreatic Cancer AD
SMAD6 602931 Aortic valve disease 2; Craniosynostosis type 7 AD
SP7 606633 osteogenesis imperfecta type 12 AR
TGFB2 190220 Loeys-Dietz syndrome 4 AD
TGFB3 190230 Arrhythmogenic right ventricular dysplasia 1; Loeys-Dietz syndrome 5 AD
TGFBR1 190181 Multiple Self-Healing Squamous Epithelioma, Susceptibility To; Loeys-Dietz syndrome 1 AD
TGFBR2 190182 Esophageal cancer, somatic; Loeys-Dietz syndrome 2; Colorectal cancer, hereditary nonpolyposis, type 6 AD
TNXB 600985 classic-like Ehlers-Danlos syndrome; Vesicoureteral reflux type 8 AD, AR
VCAN 118661 Wagner syndrome 1 AD
WNT1 164820 osteogenesis imperfecta type 15; susceptibility to early-onset autosomal dominant osteoporosis AR
ZNF469 612078 Brittle cornea syndrome AR

Common syndromes and disorders covered

Cutis laxa
Ehlers-Danlos syndrome
Familial thoracic aortic aneurysm and dissection
Loeys-Dietz syndrome
Marfan syndrome
Stickler syndrome

Noonan - RASopathies panel

The RASopathies are a group of genetic syndromes caused by germline mutations in genes that encode components or regulators of the RAS/mitogen-activated protein kinase (MAPK) pathway. Our Noonan - RASopathies panel is intended for patients with clinical symptoms of RASopathies and includes genes related to neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, capillary malformation–arteriovenous malformation syndrome, Costello syndrome, Cardio-Facio- Cutaneous syndrome, and Legius syndrome, among others. Tuberous sclerosis and McCune-Albright syndrome are included for differential diagnosis.

No. of genes: 22
TAT: 25 days
Coverage: ≥99.5% ≥20x
Details:CNV analysis included

Gene OMIM (Gene) Associated diseases (OMIM) Inheritance
BRAF 164757 Cardiofaciocutaneous Syndrome 1; Lung Cancer; Noonan syndrome 7; LEOPARD syndrome 3 AD
CBL 165360 Leukemia, juvenile myelomonocytic; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia AD
HRAS 190020 Bladder Cancer; Melanocytic nevus syndrome, congenital, somatic; Nevus, Epidermal; Schimmelpenning-Feuerstein-Mims Syndrome; Thyroid Carcinoma, Follicular; Costello syndrome AD
KAT6B 605880 Ohdo syndrome, SBBYS variant; Genitopatellar syndrome AD
KRAS 190070 Arteriovenous malformations of the brain; Bladder Cancer; familial breast-ovarian cancer type 2; Gastric Cancer, Hereditary Diffuse; Schimmelpenning-Feuerstein-Mims Syndrome; Lung Cancer; Pancreatic Cancer; acute myeloid leukemia; Noonan syndrome 3; Autoimmune lymphoproliferative syndrome type IV; Cardiofaciocutaneous syndrome 2 AD
LZTR1 600574 Noonan syndrome type 2; SCHWANNOMATOSIS 2; Noonan syndrome 10 AD, AR
MAP2K1 176872 Cardiofaciocutaneous syndrome 3 AD
MAP2K2 601263 Cardiofaciocutaneous syndrome 4 AD
NF1 613113 neurofibromatosis type 1; Neurofibromatosis-Noonan syndrome; Leukemia, juvenile myelomonocytic AD
NF2 607379 neurofibromatosis type 2; Schwannomatosis; Meningioma, familial, susceptibility to AD
NRAS 164790 colorectal cancer; Melanocytic nevus syndrome, congenital, somatic; Nevus, Epidermal; Schimmelpenning-Feuerstein-Mims Syndrome; Thyroid Carcinoma, Follicular; Neurocutaneous melanosis, somatic; Noonan syndrome 6; Autoimmune lymphoproliferative syndrome type IV AD
PTPN11 176876 LEOPARD syndrome 1; Noonan syndrome 1; Leukemia, juvenile myelomonocytic AD
RAF1 164760 Noonan syndrome 5; Cardiomyopathy, dilated, 1NN AD
RASA2 601589
RIT1 609591 Noonan syndrome 8 AD
SHOC2 602775 Noonan Syndrome-Like Disorder With Loose Anagen Hair AD
SMARCB1 601607 Schwannomatosis; Rhabdoid tumors, somatic; Coffin-Siris syndrome 3 AD
SOS1 182530 Noonan syndrome 4 AD
SOS2 601247 Noonan syndrome type 9 AD
SPRED1 609291 Legius syndrome AD
TSC1 605284 tuberous sclerosis type 1 AD
TSC2 191092 tuberous sclerosis-2 AD

Common syndromes and disorders covered

Neurofibromatosis
Noonan syndrome

Cardiofaciocutaneous syndrome
Tuberous sclerosis

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