Adult solid tumours cancer susceptibility

Gene: KIT

Green List (high evidence)

KIT (KIT proto-oncogene receptor tyrosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000157404
EnsemblGeneIds (GRCh37): ENSG00000157404
OMIM: 164920, Gene2Phenotype
KIT is in 16 panels

1 review

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

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 Review Green
  • Expert list
Phenotypes
  • Gastro-Intestinal Stromal Tumor
OMIM
164920
Clinvar variants
Variants in KIT
Penetrance
Complete
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

History Filter Activity

7 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Clare Turnbull: Gain of function.

5 Jul 2017, Gel status: 4

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

5 Jul 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

KIT was added to Adult solid tumourspanel. Source: Expert Review Green

5 Jul 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

KIT was created by ellenmcdonagh

5 Jul 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KIT was added to Adult solid tumourspanel. Sources: Expert list