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  3. KIT
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Gastrointestinal Stromal Tumour

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 7 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ClinGen definitive. GOF variants.
Sources: Expert list, Expert Review
Created: 12 Sep 2024, 4:18 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Gastrointestinal stromal tumor, MONDO:0011719; Gastrointestinal stromal tumor, familial, MIM#606764

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 12 Sep 2024, 4:18 a.m.

Panel version: 0.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Gastrointestinal stromal tumor, MONDO:0011719
  • Gastrointestinal stromal tumor, familial, MIM#606764
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

History Filter Activity

9 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kit has been classified as Green List (High Evidence).

12 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: kit has been classified as Green List (High Evidence).

12 Sep 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity

Chirag Patel (Genetic Health Queensland)

gene: KIT was added gene: KIT was added to Gastrointestinal Stromal Tumour. Sources: Expert list,Expert Review Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KIT were set to Gastrointestinal stromal tumor, MONDO:0011719; Gastrointestinal stromal tumor, familial, MIM#606764 Mode of pathogenicity for gene: KIT was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: KIT was set to GREEN