Pigmentary skin disorders

Gene: KIT

The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.

Created: 31 Jan 2023, 2:44 p.m. | Last Modified: 31 Jan 2023, 2:44 p.m.

Panel Version: 2.3

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

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
MASTOCYTOSIS, CUTANEOUS; MASTC, PIEBALD TRAIT; PBT

Publications

• 1370874
• 9990072

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

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.