Skeletal Muscle Channelopathies
Gene: KCNA1Comment 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.
Variants in this GENE are reported as part of current diagnostic practice
Variants in this GENE are reported as part of current diagnostic practice
this is not a Skeletal Muscle Channelopathies geneCreated: 10 Jan 2017, 3:37 p.m.
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.
Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
KCNA1 was added to Skeletal Muscle Channelopathiespanel. Sources: UKGTN
Model of inheritance for gene KCNA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
KCNA1 was added to Skeletal Muscle Channelopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services
KCNA1 was added to Skeletal Muscle Channelopathiespanel. Sources: Radboud University Medical Center, Nijmegen