Intellectual disability
Gene: KCNJ2

KCNJ2 (potassium voltage-gated channel subfamily J member 2)
EnsemblGeneIds (GRCh38): ENSG00000123700
EnsemblGeneIds (GRCh37): ENSG00000123700
OMIM: 600681, Gene2Phenotype
KCNJ2 is in 10 panels

1 review

Arina Puzriakova (Genomics England Curator)

Comment on publications: PMID: 22155372 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Created: 27 Mar 2025, 2:06 p.m. | Last Modified: 27 Mar 2025, 2:06 p.m.

Panel Version: 8.229

PMID: 22155372 (2012) - 8-year-old Japanese girl with a markedly short QT interval and a heterozygous KCNJ2 variant (M301K). Authors noted extracardiac features, including severe intellectual disability and seizures, which they suggested might be attributed to the KCNJ2 variant, but they could not exclude the possibility of other mutated genes.

Intellectual disability is not a typical feature and currently there is not enough evidence to conclusively link KCNJ2. Therefore rating Red until more evidence emerges.
Sources: Literature
Created: 27 Mar 2025, 2:06 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Short QT syndrome 3, OMIM:609622

Publications

22155372

Created: 27 Mar 2025, 2:06 p.m.

Panel version: 8.228

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Literature

Phenotypes

Short QT syndrome 3, OMIM:609622

OMIM

600681

Clinvar variants

Variants in KCNJ2

Penetrance

None

Publications

22155372

Panels with this gene

History Filter Activity

27 Mar 2025, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: KCNJ2 were set to 22155372

27 Mar 2025, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: KCNJ2 was added gene: KCNJ2 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNJ2 were set to 22155372 Phenotypes for gene: KCNJ2 were set to Short QT syndrome 3, OMIM:609622

Intellectual disability Gene: KCNJ2