Genomics England
GMS Panels
Panels
Genes and Entities

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 4.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
TIETZ SYNDROME, OMIM:103500, WAARDENBURG SYNDROME TYPE 2A, OMIM:193510, Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.42
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
Green
in Pigmentary skin disorders
R-numbers: R236
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
COMMAD, WAARDENBURG SYNDROME, TYPE 2A, COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS, Waardenburg syndrome, WS2A
Green
in Structural eye disease
R-numbers: R36
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COMMAD syndrome, 617306, Waardenburg syndrome, type 2a, WS2A, 193510