Skeletal Muscle Channelopathies
Gene: KCNA1EnsemblGeneIds (GRCh38): ENSG00000111262
EnsemblGeneIds (GRCh37): ENSG00000111262
OMIM: 176260, Gene2Phenotype
KCNA1 is in 17 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 panelCreated: 22 Feb 2017, 4:35 p.m.
Fowzan ALKURAYA (King Faisal Specialist Hospital and Research Center)
Variants in this GENE are reported as part of current diagnostic practice
Fowzan ALKURAYA (King Faisal Specialist Hospital and Research Center)
Variants in this GENE are reported as part of current diagnostic practice
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)
this is not a Skeletal Muscle Channelopathies geneCreated: 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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Episodic ataxia/myokymia syndrome, 160120
- Episodic Ataxia
- Myokymia
- Episodic Ataxia, Type 1
- EA1
- OMIM
- 176260
- Clinvar variants
- Variants in KCNA1
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- DDG2P
- Renal tubulopathies
- Intellectual disability
- Skeletal muscle channelopathy
- Adult onset neurodegenerative disorder
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary ataxia
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Paroxysmal central nervous system disorders
- Hereditary neuropathy or pain disorder
- Familial Meniere Disease
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
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.
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)KCNA1 was added to Skeletal Muscle Channelopathiespanel. Sources: UKGTN
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene KCNA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Eik Haraldsdottir (Genomics England)KCNA1 was added to Skeletal Muscle Channelopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Eik Haraldsdottir (Genomics England)KCNA1 was added to Skeletal Muscle Channelopathiespanel. Sources: Radboud University Medical Center, Nijmegen