Sarcoma susceptibility
Gene: KITEnsemblGeneIds (GRCh38): ENSG00000157404
EnsemblGeneIds (GRCh37): ENSG00000157404
OMIM: 164920, Gene2Phenotype
KIT is in 15 panels
4 reviews
Ellen McDonagh (Genomics England Curator)
This gene was added to this panel after feedback from Laura King (Great Ormond Street Hospital, London) to include genes from the Familial rhabdomyosarcoma gene panel (code 290 version 1.4) and the Inherited predisposition to GIST gene panel (code 523, version 0.20). The highest rating for this gene from these two panels was Green, as captured here in this review.Created: 13 Mar 2019, 2:56 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Rachel Robinson (Leeds Genetics Laboratory)
Variants in this GENE are reported as part of current diagnostic practice
Lara Hawkes (Genomics England)
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
-
- NHS GMS
- Expert Review Amber
- Expert Review Amber
- Expert List
- Phenotypes
-
- Gastrointestinal stromal tumor, familial, OMIM:606764
- Gastrointestinal stromal tumor, MONDO:0011719
- OMIM
- 164920
- Clinvar variants
- Variants in KIT
- Penetrance
- None
- 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
-
- 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 to Gastrointestinal stromal tumor, familial, OMIM:606764; Gastrointestinal stromal tumor, MONDO:0011719
Set mode of pathogenicity
Arina Puzriakova (Genomics England Curator)Mode of pathogenicity for gene: KIT was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to KIT.
Created, Added New Source, Set mode of inheritance
Rebecca Foulger (Genomics England curator)gene: KIT was added gene: KIT was added to Sarcoma susceptibility. Sources: Expert Review Amber Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown