Renal Tubulopathies and related disorders
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 Hypomagnesaemia panel version Imported from Mendeliome panel version 0.11328

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
KidGen_Magnesium v38.1.0
Expert Review Green
Victorian Clinical Genetics Services
Victorian Clinical Genetics Services
Expert Review Green

Phenotypes

SESAME syndrome, MIM# 612780

OMIM

602208

Clinvar variants

Variants in KCNJ10

Penetrance

None

Publications

Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KCNJ10 was added gene: KCNJ10 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KCNJ10 were set to 21849804; 19420365; 19289823; 11466414 Phenotypes for gene: KCNJ10 were set to SESAME syndrome, MIM# 612780

Renal Tubulopathies and related disorders Gene: KCNJ10