Intellectual disability
Gene: KCNA1

KCNA1 (potassium voltage-gated channel subfamily A member 1)
EnsemblGeneIds (GRCh38): ENSG00000111262
EnsemblGeneIds (GRCh37): ENSG00000111262
OMIM: 176260, Gene2Phenotype
KCNA1 is in 17 panels

5 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

PMID:30055040/ PMID:34778950 reported the identification of three heterozygous de novo variants (p.Pro403Ser, p.Pro405Leu, and p.Pro405Ser) in the pore region found in four patients from three families with severe developmental and epileptic encephalopathy (DEE). All four patients had developmental delay, while three patients from two families had intellectual disability. As there are only two families reported with ID, this gene can only be rated amber with the current evidence.
Created: 27 Feb 2024, 6:02 p.m. | Last Modified: 27 Feb 2024, 6:02 p.m.

Panel Version: 5.465

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 27 Feb 2024, 6:02 p.m.
Last Modified: 27 Feb 2024, 6:02 p.m.
Panel version: 5.465

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

There have been several recent reports that show de novo missense variants in specific regions of this gene are associated with epileptic encephalopathy, supported by functional studies, and gene now meets criteria to be green for this phenotype
Created: 21 Feb 2024, 1:01 p.m. | Last Modified: 21 Feb 2024, 1:01 p.m.

Panel Version: 5.453

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
epileptic encephalopathy; ataxia

Publications

Created: 21 Feb 2024, 1:01 p.m.
Last Modified: 21 Feb 2024, 1:01 p.m.
Panel version: 5.453

Olivia Niblock (Genomics England Curator)

Red List (low evidence)

One paper suggests that this gene is down-regulated in Fragile-X syndrome. This syndrome has been linked to intellectual disability.
Created: 31 Oct 2017, 10:36 a.m.

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

Publications

27730449

Created: 31 Oct 2017, 10:36 a.m.

Panel version: Imported from Intellectual disability update Oct 2017 panel version 0.6

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_gilissen_2014_known;in_omim_20150205_movement;in_UKGTN_v12 . Main mutation mechanism : NA
Created: 27 Jul 2017, 6:58 p.m.

Evidences key, gene present in following gene lists and main mutation mechanism : gilissen_2014_known; omim_20150205_movement; UKGTN_v12; neuro_20160418_strict; NA. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 12:42 p.m.

Mode of inheritance
Unknown

Publications

24896178
omim.org
Version 12 ukgtn.nhs.uk

Created: 2 Aug 2017, 7:35 p.m.

Panel version: 1.354

Louise Daugherty (Genomics England Curator)

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to assess inclusion and pertinence to this panel.
Created: 20 Jul 2017, 12:46 p.m.

Created: 20 Jul 2017, 12:46 p.m.

Panel version: 1.217

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber

Phenotypes

Episodic ataxia/myokymia syndrome, OMIM:160120

OMIM

176260

Clinvar variants

Variants in KCNA1

Penetrance

Complete

Publications

Panels with this gene