Hereditary ataxia

Gene: KCNA1

Green List (high evidence)

KCNA1 (potassium voltage-gated channel subfamily A member 1)
EnsemblGeneIds (GRCh38): ENSG00000111262
EnsemblGeneIds (GRCh37): ENSG00000111262
OMIM: 176260, Gene2Phenotype
KCNA1 is in 16 panels

2 reviews

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Good evidence from OMIM and expert review
Created: 2 Feb 2016, 10:02 a.m.

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Fine. Good evidence in lit, positive in our cohort. Mode of pathogenicity;gain-of-function?
Created: 24 Nov 2015, 4:57 p.m.

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

Phenotypes
Episodic ataxia/myokymia syndrome,

Mode of pathogenicity
Other - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

2 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KCNA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

6 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNA1 was added to Hereditary ataxiapanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

6 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KCNA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

6 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNA1 was added to Hereditary ataxiapanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

6 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNA1 was added to Hereditary ataxiapanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen