KIT

KIT proto-oncogene receptor tyrosine kinase
OMIM: 164920
PanelMode of inheritanceDetails
6 panels
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Gastro-Intestinal Stromal Tumor
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HUMAN PIEBALDISM 172800
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
Piebaldism and congenital sensorineural hearing loss
R-numbers: R363
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
R-numbers: R236
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
PBT, Piebaldism, MASTC, PIEBALD TRAIT, Mast cell disease, MASTOCYTOSIS, CUTANEOUS
R-numbers: R332
Signed-off version 1.6
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
MASTOCYTOSIS, CUTANEOUS, Mast cell disease, Piebaldism, MASTC