Rare genetic inflammatory skin disorders
Gene: KITEnsemblGeneIds (GRCh38): ENSG00000157404
EnsemblGeneIds (GRCh37): ENSG00000157404
OMIM: 164920, Gene2Phenotype
KIT is in 15 panels
3 reviews
Catherine Snow (Genomics England)
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
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
MASTOCYTOSIS, CUTANEOUS; MASTC
Publications
Rebecca Foulger (Genomics England curator)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Mastocytosis, cutaneous, OMIM:154800
- OMIM
- 164920
- Clinvar variants
- Variants in KIT
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Rare genetic inflammatory skin disorders
- Unexplained kidney failure in young people
- DDG2P
- Sarcoma cancer susceptibility
- Inherited predisposition to GIST
- Intellectual disability
- Pigmentary skin disorders
- Adult solid tumours for rare disease
- Unexplained young onset end-stage renal disease - additional genes
- Sarcoma susceptibility
- Adult solid tumours cancer susceptibility
- Monogenic hearing loss
- Fetal anomalies
- CAKUT
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: KIT were changed from MASTOCYTOSIS, CUTANEOUS, OMIM:154800; Piebaldism, OMIM:172800 to Mastocytosis, cutaneous, OMIM:154800
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: KIT were changed from MASTOCYTOSIS, CUTANEOUS; Mast cell disease; Piebaldism; MASTC to MASTOCYTOSIS, CUTANEOUS, OMIM:154800; Piebaldism, OMIM:172800
Set Phenotypes, Set publications
Catherine Snow (Genomics England)Added phenotypes MASTOCYTOSIS, CUTANEOUS; MASTC for gene: KIT Publications for gene KIT were changed from to 9990072
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to KIT.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)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