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  2. Deafness_Isolated
  3. KIT
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Deafness_Isolated

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Deafness described in a proportion of affected individuals.
Sources: Expert list
Created: 31 Dec 2019, 6:59 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Piebaldism, MIM# 172800

Created: 31 Dec 2019, 6:59 a.m.

Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.148

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Piebaldism, MIM# 172800
OMIM
164920
Clinvar variants
Variants in KIT
Penetrance
None
Panels with this gene

History Filter Activity

3 Oct 2020, 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).

21 Jul 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KIT was added gene: KIT was added to DeafnessIsolated. Sources: Expert Review Green,Expert list Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KIT were set to Piebaldism, MIM# 172800