Ataxia - paediatric
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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated families, mouse models. Key clinical features include seizures, ataxia, ID, deafness and electrolyte disturbance.

Associated with isolated deafness is disputed.
Created: 14 Mar 2022, 6:23 a.m. | Last Modified: 14 Mar 2022, 6:23 a.m.

Panel Version: 0.11328

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SESAME syndrome, MIM# 612780

Publications

Created: 14 Mar 2022, 6:23 a.m.
Last Modified: 14 Mar 2022, 6:23 a.m.
Panel version: Imported from Mendeliome panel version 0.11328

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital
Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome
SESAME syndrome, 612780

OMIM

602208

Clinvar variants

Variants in KCNJ10

Penetrance

None

Panels with this gene

History Filter Activity

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: KCNJ10 was added gene: KCNJ10 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCNJ10 were set to Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome; SESAME syndrome, 612780

Ataxia - paediatric Gene: KCNJ10