Pigmentary skin disorders

Gene: KIT

Green List (high evidence)

KIT (KIT proto-oncogene receptor tyrosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000157404
EnsemblGeneIds (GRCh37): ENSG00000157404
OMIM: 164920, Gene2Phenotype
KIT is in 17 panels

2 reviews

Anna de Burca (Genomics England Curator)

Green List (high evidence)

Variants in this gene are associated with both piebaldism and familial GIST. The latter condition is also associated with abnormal cutaneous pigmentation.
Created: 17 Apr 2019, 6:22 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Piebaldism; Gastrointestinal stromal tumor, familial

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: KIT; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 11:31 a.m.

History Filter Activity

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to KIT.

31 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: KIT was added gene: KIT was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KIT were set to Mast cell disease; Piebaldism