Single gene establishment Dec 2012
December 16, 2012
Centogene has established new genes during the last 4 weeks, e.g. AP4M1 for determining SPG50, MOCS1/2 for Molybdenum cofactor deficiency type A/B or CNGA3/CNGB3/GNAT2 for diagnosing correctly Achromatopsia type 2, 3 and 4 to further endorse Centogene’s ophthalmological expertise.
- Neurological diseases: AP4M1, MRE11A, CTDP1, GNAL, ANO3, PIK3R5, VLDLR, ETHE1, ZNF423, EXOSC8, NUBPL, NDUFAF1, NDUFAF3, NDUFA13, PC, MTTP, WDR62, CEP152, SLC25A19, CEP63, IER3IP1, MRE11A
- Metabolic diseases: HSD3B2, OPA3, CYP17A1, POR, NBN, PRF1, HSD11B2, CLN3, MRPS16, INS, CYP11B2, LMBRD1, MOCS1, MOCS2, DCXR, PC, PDP1, TCN2
- Ophthalmological diseases: CNGA3, CNGB3, GNAT2, TGFBI, ADAR, MITF, STRA6
- Ear, Nose and Throat diseases: CIB2, TRMU, MITF
- Bone, Skin and Immune diseases: EFEMP2, PYCR1, GJB6
- Cardiological diseases: GJA5, MYH6, GATA6
