This Panel is marked as Internal
Tumour predisposition - adult onset
Gene: KIT
KIT (KIT proto-oncogene receptor tyrosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000157404
EnsemblGeneIds (GRCh37): ENSG00000157404
OMIM: 164920, Gene2Phenotype
KIT is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000157404
EnsemblGeneIds (GRCh37): ENSG00000157404
OMIM: 164920, Gene2Phenotype
KIT is in 15 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Adult solid tumours for rare disease (Version 1.21)
- Phenotypes
-
- Gastro-Intestinal Stromal Tumor
- OMIM
- 164920
- Clinvar variants
- Variants in KIT
- Penetrance
- None
- Panels with this gene
-
- Unexplained young onset end-stage renal disease - additional genes
- Inherited predisposition to GIST
- Rare genetic inflammatory skin disorders
- Intellectual disability
- CAKUT
- Sarcoma cancer susceptibility
- DDG2P
- Cytopenias and congenital anaemias
- Monogenic hearing loss
- Fetal anomalies
- Pigmentary skin disorders
- Adult solid tumours for rare disease
- Sarcoma susceptibility
- Unexplained kidney failure in young people
- Adult solid tumours cancer susceptibility
History Filter Activity
31 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Rebecca Foulger (Genomics England curator)Panel checked against two component panels (Adult solid tumours for rare disease v1.21 and Familial Tumours Syndromes of the central & peripheral Nervous system v1.8) and promoted to Version 1.0.
17 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: KIT was added gene: KIT was added to Tumour predisposition - adult onset. Sources: Adult solid tumours for rare disease (Version 1.21),Expert Review Green Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KIT were set to Gastro-Intestinal Stromal Tumor