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  2. Deafness_Isolated
  3. KITLG
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Deafness_Isolated

Gene: KITLG

Amber List (moderate evidence)
KITLG (KIT ligand)
EnsemblGeneIds (GRCh38): ENSG00000049130
EnsemblGeneIds (GRCh37): ENSG00000049130
OMIM: 184745, Gene2Phenotype
KITLG is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated families, limited functional data.
Sources: Expert list
Created: 31 Dec 2019, 1:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697

Publications

Created: 31 Dec 2019, 1:33 a.m.

Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.77

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
  • Expert list
Phenotypes
  • Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697
OMIM
184745
Clinvar variants
Variants in KITLG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kitlg has been classified as Amber List (Moderate Evidence).

21 Jul 2020, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KITLG was added gene: KITLG was added to DeafnessIsolated. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: KITLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KITLG were set to 26522471 Phenotypes for gene: KITLG were set to Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697