Adult solid tumours for rare disease
Gene: KITEnsemblGeneIds (GRCh38): ENSG00000157404
EnsemblGeneIds (GRCh37): ENSG00000157404
OMIM: 164920, Gene2Phenotype
KIT is in 15 panels
1 review
Clare Turnbull (Queen Mary University London)
Gain of function.Created: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Gastro-Intestinal Stromal Tumor
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Gastrointestinal stromal tumor, familial, OMIM:606764
- OMIM
- 164920
- Clinvar variants
- Variants in KIT
- Penetrance
- None
- 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
- 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
- Intellectual disability
- CAKUT
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: KIT were changed from Gastro-Intestinal Stromal Tumor to Gastrointestinal stromal tumor, familial, OMIM:606764
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)5th March 2018 - promoted to version 1 after expert review and internal clinical review.
Added New Source
Ellen McDonagh (Genomics England Curator)KIT was added to Adult solid tumours for rare disease panel. Sources: Expert Review Green,Expert list
Created
Ellen McDonagh (Genomics England Curator)KIT was created by Ellen McDonagh