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  3. KCNA1
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Hereditary ataxia with onset in adulthood

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 17 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.
Created: 15 Apr 2019, 10:21 a.m.

Panel version: 1.8

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Multiple variants reported in the literature - seems to be a report of a large deletion including mulitple other genes however this does not provide adequate evidence for haploinsuffiency
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Episodic ataxia/myokymia syndrome, 160120

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments

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

Created: 15 Apr 2019, 10:06 a.m.

Panel version: 1.7

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Brain channelopathy v1.46
  • Hereditary ataxia v1.148
Phenotypes
  • myokymia with periodic ataxia
  • Episodic ataxia/myokymia syndrome
  • EPISODIC ATAXIA, TYPE 1
  • Episodic ataxia/myokymia syndrome, 160120
Tags
treatable
OMIM
176260
Clinvar variants
Variants in KCNA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Episodic ataxia/myokymia syndrome, 160120 for gene: KCNA1

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to KCNA1.

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to KCNA1.

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked panel against panel constituents. Ready to promote to version 1.

18 Dec 2018, Gel status: 4

Added Tag

Eleanor Williams (Genomics England Curator)

Tag treatable tag was added to gene: KCNA1.

15 Dec 2018, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: KCNA1 was added gene: KCNA1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNA1 were set to 17575281 Phenotypes for gene: KCNA1 were set to EPISODIC ATAXIA, TYPE 1; Episodic ataxia/myokymia syndrome; myokymia with periodic ataxia