Alport
Basis-Diagnostik
COL4A3, COL4A4, COL4A5, MYH9
COL4A3, COL4A4, COL4A5, MYH9
ALMS1
BSND
EYA1, SIX1, SIX5
CDKN1C
CHD7, SEMA3E
ANKH
COL4A6
KCNE1, KCNQ1
CD151
NDP
FOXI1, KCNJ10, SLC26A4
CLPP, HARS, HSD17B4, LARS2
ABHD12
ATP6V1B1
CACNA1D
COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
CHSY1
POLR1C, POLR1D, TCOF1
SLC19A2
ADGRV1 (GPR98), CDH23, IB2, CLRN1, HARS, MYO7A, PCDH15, PDZD7, USH1G, USH2A, WHRN
EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10