Search results for MITF

Gene symbol Genotype Mutation consequence Disease Panel
MITF biallelic loss of function Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness
MITF monoallelic loss of function WAARDENBURG SYNDROME TYPE 2A
MITF monoallelic uncertain TIETZ SYNDROME
MITF biallelic loss of function COMMAD syndrome
MITF monoallelic loss of function WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM
MITF monoallelic uncertain TIETZ SYNDROME
MITF biallelic loss of function Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness (COMMAD)
MITF monoallelic loss of function WAARDENBURG SYNDROME TYPE 2A
MITF monoallelic uncertain TIETZ SYNDROME