Pigmentary skin disordersGene: KIT
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
Piebaldism; Gastrointestinal stromal tumor, familial
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.
Added phenotypes PBT; MASTOCYTOSIS, CUTANEOUS; MASTC, PIEBALD TRAIT for gene: KIT Publications for gene KIT were changed from to 9990072; 1370874
Source London North GLH was added to KIT.
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