ELOVL4

Mb. Stargardt

ABCA4, CNGB3, ELOVL4, PROM1, PRPH2

Makuladystrophie

ABCA4, BEST1, C1QTNF5, CDH3, CDHR1, CFH, CNGB3, CRX, CTNNA1, ELOVL4, GUCA1B, IMPG1, IMPG2, PROM1, PRPH2, RDH5, RP1L1, RPE65, RPGR, TIMP3, TTLL5

Spinocerebelläre Ataxien (SCA) – autosomal dominant, erweiterte Diagnostik

AFG3L, ATP1A3, CACNA1A, CACNA1G, CACNB4, CCDC88C, DNAJC5, DNMT1, EEF2, ELOVL4, ELOVL5, KCNA1, KCND3, SCN2A, SLC1A3, SPG7, TGM6, TRPC3