Rare genetic inflammatory skin disordersGene: KIT
Technical complexity in detecting this gain of function mutation.
Created: 12 Dec 2019, 4:06 p.m. | Last Modified: 12 Dec 2019, 4:06 p.m.
Panel Version: 0.22
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
MASTOCYTOSIS, CUTANEOUS; MASTC
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, 2:02 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: KIT were changed from MASTOCYTOSIS, CUTANEOUS, OMIM:154800; Piebaldism, OMIM:172800 to Mastocytosis, cutaneous, OMIM:154800
Phenotypes for gene: KIT were changed from MASTOCYTOSIS, CUTANEOUS; Mast cell disease; Piebaldism; MASTC to MASTOCYTOSIS, CUTANEOUS, OMIM:154800; Piebaldism, OMIM:172800
Added phenotypes MASTOCYTOSIS, CUTANEOUS; MASTC for gene: KIT Publications for gene KIT were changed from to 9990072
Source London North GLH was added to KIT.
gene: KIT was added gene: KIT was added to Rare genetic inflammatory 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