This Panel is marked as Retired
Multiple Tumours
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
1 review
Ellen McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Activating.Created: 5 Feb 2016, 11:46 a.m.
Mode of pathogenicity
Other - please provide details in the comments
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- UKGTN
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Gastro-Intestinal Stromal Tumor
- OMIM
- 164920
- Clinvar variants
- Variants in KIT
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Fetal anomalies
- Rare genetic inflammatory skin disorders
- Cytopenias and congenital anaemias
- CAKUT
- Unexplained kidney failure in young people
- Sarcoma cancer susceptibility
- Intellectual disability
- Inherited predisposition to GIST
- Adult solid tumours for rare disease
- Sarcoma susceptibility
- Pigmentary skin disorders
- Adult solid tumours cancer susceptibility
- Monogenic hearing loss
- Unexplained young onset end-stage renal disease - additional genes
- DDG2P
History Filter Activity
18 Apr 2017, Gel status: 2
Set publications
Ellen McDonagh (Genomics England Curator)Publications for KIT were set to 9697690;28314314
18 Apr 2017, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
18 Apr 2017, Gel status: 1
Set publications
Ellen McDonagh (Genomics England Curator)Publications for KIT were set to 9697690
18 Apr 2017, Gel status: 1
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for KIT was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
18 Apr 2017, Gel status: 1
Upload gene information
Ellen McDonagh (Genomics England Curator)KIT was added to Multiple Tumourspanel. Sources: UKGTN
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)KIT was created by ellenmcdonagh
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)KIT was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)