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 16 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: MOI should be be updated from 'monoallelic' to 'both mono- and biallelic (but biallelic mutations cause a more SEVERE disease form)' (tagged)

Copied from Ellen McDonagh (Genomics England Curator) review on Hearing loss panel:
PMID: 23399981 - A report of a proband with no pigmentation of his skin nor hair and blue irides, and pro- found sensorineural hearing loss. A homozygous deletion of exons 20 and 21 in the proband was found, and parents were heterozygous for these deletions (homozygosity for piebaldism is clinically more severe than heterozygous state). Also describe other published studies of c-kit mutations in mice, which have defects including albinism and deafness.
Created: 28 Feb 2022, 2:58 p.m. | Last Modified: 28 Feb 2022, 2:58 p.m.
Panel Version: 1.38

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
MASTOCYTOSIS, CUTANEOUS; MASTC, PIEBALD TRAIT; PBT

Publications

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

28 Feb 2022, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_22_MOI tag was added to gene: KIT.

28 Feb 2022, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: KIT were set to 9990072; 1370874

28 Feb 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: KIT were changed from PBT; Piebaldism; MASTC, PIEBALD TRAIT; Mast cell disease; MASTOCYTOSIS, CUTANEOUS to Mastocytosis, cutaneous, OMIM:154800; Piebaldism, OMIM:172800

28 Feb 2022, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: KIT was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

12 Dec 2019, Gel status: 3

Set Phenotypes, Set publications

Catherine Snow (Genomics England)

Added phenotypes PBT; MASTOCYTOSIS, CUTANEOUS; MASTC, PIEBALD TRAIT for gene: KIT Publications for gene KIT were changed from to 9990072; 1370874

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