Deafness_IsolatedAndComplex
Gene: KCNJ10

KCNJ10 (potassium voltage-gated channel subfamily J member 10)
EnsemblGeneIds (GRCh38): ENSG00000177807
EnsemblGeneIds (GRCh37): ENSG00000177807
OMIM: 602208, Gene2Phenotype
KCNJ10 is in 12 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Comment when marking as ready: Note that it is the association with isolated deafness that is disputed. There is ample evidence that bi-allelic variants cause syndromic deafness.
Created: 31 Dec 2019, 2:30 a.m. | Last Modified: 31 Dec 2019, 2:30 a.m.

Panel Version: 0.93

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SESAME syndrome 612780

Created: 31 Dec 2019, 2:30 a.m.
Last Modified: 31 Dec 2019, 2:30 a.m.
Panel version: 0.580

Lilian Downie (Victorian Clinical Genetics Services)

Red List (low evidence)

Disputed by ClinGen. Variants found in individuals with deafness and dilated vestibular aqueduct. Postulated to be digenic inheritance with SLC26A4.
Created: 31 Dec 2019, 1:30 a.m. | Last Modified: 31 Dec 2019, 1:30 a.m.

Panel Version: 0.76

Created: 31 Dec 2019, 1:30 a.m.
Last Modified: 31 Dec 2019, 1:30 a.m.
Panel version: 0.76

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

SESAME syndrome, MIM# 612780

OMIM

602208

Clinvar variants

Variants in KCNJ10

Penetrance

None

Publications

Panels with this gene