MITF

melanogenesis associated transcription factor
OMIM: 156845
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness 617306, WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM 103470, TIETZ SYNDROME 103500, WAARDENBURG SYNDROME TYPE 2A 193510
Green
in Hearing loss
R-numbers: R67
Signed-off version 2.5
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Waardenburg syndrome, type 2A, 193510, Waardenburg syndrome/ocular albinism, digenic, 103470, Tietz albinism-deafness syndrome, 103500, {Melanoma, cutaneous malignant, susceptibility to, 8}, 614456
R-numbers: R236
Signed-off version 1.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
COMMAD, WAARDENBURG SYNDROME, TYPE 2A, COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS, Waardenburg syndrome, WS2A
R-numbers: R36
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COMMAD syndrome, 617306, Waardenburg syndrome, type 2a, WS2A, 193510