Deafness_Isolated
Gene: KCNE1

KCNE1 (potassium voltage-gated channel subfamily E regulatory subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000180509
EnsemblGeneIds (GRCh37): ENSG00000180509
OMIM: 176261, Gene2Phenotype
KCNE1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families and animal models.
Created: 31 Dec 2019, 1:27 a.m. | Last Modified: 31 Dec 2019, 1:27 a.m.

Panel Version: 0.74

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Jervell and Lange-Nielsen syndrome 2, MIM# 612347

Created: 31 Dec 2019, 1:27 a.m.
Last Modified: 31 Dec 2019, 1:27 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.74

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

Jervell and Lange-Nielsen syndrome 2, MIM# 612347

OMIM

176261

Clinvar variants

Variants in KCNE1

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: kcne1 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: KCNE1 was added gene: KCNE1 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KCNE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCNE1 were set to Jervell and Lange-Nielsen syndrome 2, MIM# 612347

Deafness_Isolated Gene: KCNE1