Hereditary ataxia

Gene: KCNJ10

Green List (high evidence)

KCNJ10 (potassium voltage-gated channel subfamily J member 10)
EnsemblGeneIds (GRCh38): ENSG00000177807
EnsemblGeneIds (GRCh37): ENSG00000177807
OMIM: 602208, Gene2Phenotype
KCNJ10 is in 13 panels

2 reviews

Damian Smedley (Genomics England Curator)

Comment on list classification: Evidence from expert reviewer and OMIM
Created: 4 Feb 2016, 2:11 p.m.

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Fine. Good evidence in lit
Created: 24 Nov 2015, 4:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome
OMIM
602208
Clinvar variants
Variants in KCNJ10
Penetrance
Complete
Panels with this gene

History Filter Activity

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KCNJ10 was changed to BIALLELIC, autosomal or pseudoautosomal

6 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNJ10 was added to Hereditary ataxiapanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services

6 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNJ10 was added to Hereditary ataxiapanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services