Adult onset neurodegenerative disorder
Gene: KCNA1EnsemblGeneIds (GRCh38): ENSG00000111262
EnsemblGeneIds (GRCh37): ENSG00000111262
OMIM: 176260, Gene2Phenotype
KCNA1 is in 17 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
Episodic ataxia is a neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia. Onset usually in childhood - red?Created: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
myokymia with periodic ataxia; Episodic ataxia/myokymia syndrome,; EPISODIC ATAXIA, TYPE 1
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Primarily assoictaed with ataxia.Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
myokymia with periodic ataxia; Episodic ataxia/myokymia syndrome,; EPISODIC ATAXIA, TYPE 1
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
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. All the green and amber, except for the genes with triplet repeats, were reviewed.Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Phenotypes
-
- myokymia with periodic ataxia
- Episodic ataxia/myokymia syndrome,
- EPISODIC ATAXIA, TYPE 1
- Tags
- OMIM
- 176260
- Clinvar variants
- Variants in KCNA1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Renal tubulopathies
- Hereditary ataxia with onset in adulthood
- Skeletal muscle channelopathy
- Paroxysmal central nervous system disorders
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Hereditary ataxia
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary neuropathy
- Early onset or syndromic epilepsy
- Familial Meniere Disease
History Filter Activity
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to KCNA1. Rating Changed from Green List (high evidence) to Red List (low evidence)
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to KCNA1.
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to KCNA1.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to KCNA1.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to KCNA1.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Louise Daugherty: Comment on phenotypes: amended
Added Tag
Rebecca Foulger (Genomics England curator)Tag treatable tag was added to gene: KCNA1.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Added phenotypes Episodic ataxia/myokymia syndrome, for gene: KCNA1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: KCNA1 was added gene: KCNA1 was added to Neurodegenerative disorders - adult onset. Sources: 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 myokymia with periodic ataxia; EPISODIC ATAXIA, TYPE 1