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Newborns main panel

Gene: KCNA1

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

1 review

Mafalda Gomes (Genomics England Curator)

Gene REMOVED because of specialist opinion (Dan Lumsden).
Created: 7 Jul 2023, 9:53 a.m. | Last Modified: 7 Jul 2023, 9:53 a.m.
Panel Version: 0.147
The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://search.clinicalgenome.org/kb/genes/HGNC:6218 PMID: 32316562 - review of 47 path or likely path variants from the literature
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.147

History Filter Activity

14 Sep 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Episodic ataxia/myokymia syndrome for gene: KCNA1

5 Jul 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Episodic ataxia/myokymia syndrome for gene: KCNA1

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to KCNA1. Added phenotypes Episodic ataxia/myokymia syndrome for gene: KCNA1 Rating Changed from No List (delete) to Amber List (moderate evidence)

27 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

gene: KCNA1 was added gene: KCNA1 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNA1 were set to Episodic ataxia/myokymia syndrome