Intellectual disability
Gene: KCNA3

KCNA3 (potassium voltage-gated channel subfamily A member 3)
EnsemblGeneIds (GRCh38): ENSG00000177272
EnsemblGeneIds (GRCh37): ENSG00000177272
OMIM: 176263, Gene2Phenotype
KCNA3 is in 2 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 2:57 p.m. | Last Modified: 26 Sep 2024, 2:57 p.m.

Panel Version: 7.41

Comment on list classification: As reported in PMID:37964487 and reviewed by Gavin Ryan, 12 patients had developmental delays, of which nine patients had mild, moderate or severe intellectual disability. Hence, this gene can be promoted to green rating in the next GMS review.
Created: 30 Jan 2024, 4:39 p.m. | Last Modified: 30 Jan 2024, 4:39 p.m.

Panel Version: 5.414

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071

Created: 30 Jan 2024, 4:32 p.m.
Last Modified: 30 Jan 2024, 4:32 p.m.
Panel version: 7.41

Gavin Ryan (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Soldovieri et al identified 14 de novo missense variants in KCNA3 gene. The majority of individuals presented with ID, developmental delay, and epilepsy, amongst other features. Functional studies showed loss-of-function effects for some variants and possible gain-of-function for others. One of these variants has also been identified in NHS GMS WGS patient with consistent features.
Sources: Expert Review
Created: 29 Jan 2024, 3:58 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; Developmental Delay; Epilepsy

Publications

PMID: 37964487

Created: 29 Jan 2024, 3:58 p.m.

Panel version: 5.409

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS

Phenotypes

Neurodevelopmental disorder, MONDO:0700092
intellectual disability, MONDO:0001071

Tags

gene-checked

OMIM

176263

Clinvar variants

Variants in KCNA3

Penetrance

unknown

Publications

37964487

Panels with this gene

History Filter Activity

2 Oct 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: KCNA3.

26 Sep 2024, Gel status: 3