Skeletal Muscle Channelopathies

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 19 panels

5 reviews

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as green as 2 expert reviewers (Dr Matthwews and Dr ALKURAYA) suggested adding it to the panel
Created: 22 Feb 2017, 4:35 p.m.

Fowzan ALKURAYA (King Faisal Specialist Hospital and Research Center)

Green List (high evidence)

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

Fowzan ALKURAYA (King Faisal Specialist Hospital and Research Center)

Green List (high evidence)

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

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Red List (low evidence)

this is not a Skeletal Muscle Channelopathies gene
Created: 10 Jan 2017, 3:37 p.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Is on the Brain Channel NGS Panel, and under Episodic ataxia: Type 1 testing, in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual, therefore I am unsure whether this should be on the skeletal channelopathies panel.
Created: 10 Jun 2016, 2:50 p.m.

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team.

22 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

22 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

7 Feb 2017, Gel status: 2

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

10 Jun 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

7 Aug 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

KCNA1 was added to Skeletal Muscle Channelopathiespanel. Sources: UKGTN

7 Aug 2015, Gel status: 2

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

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

7 Aug 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

KCNA1 was added to Skeletal Muscle Channelopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services

7 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

KCNA1 was added to Skeletal Muscle Channelopathiespanel. Sources: Radboud University Medical Center, Nijmegen