Paroxysmal central nervous system disorders
Gene: KCNA1EnsemblGeneIds (GRCh38): ENSG00000111262
EnsemblGeneIds (GRCh37): ENSG00000111262
OMIM: 176260, Gene2Phenotype
KCNA1 is in 17 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Rebecca Foulger (Genomics England curator)
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23
Tracy Lester (Genetics laboratory, Oxford UK)
Episodic ataxiaCreated: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Episodic Ataxia, type 1 (Episodic ataxia/myokymia syndrome), 160120
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- London North GLH
- Wessex and West Midlands GLH
- Phenotypes
-
- Episodic Ataxia
- EPISODIC ATAXIA, TYPE 1
- Episodic ataxia/myokymia syndrome, 160120
- EA1
- Myokymia
- myokymia with periodic ataxia
- Episodic Ataxia, Type 1
- OMIM
- 176260
- Clinvar variants
- Variants in KCNA1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Renal tubulopathies
- Skeletal muscle channelopathy
- Adult onset neurodegenerative disorder
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Paroxysmal central nervous system disorders
- Intellectual disability
- Familial Meniere Disease
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: kcna1 has been classified as Green List (High Evidence).
Set mode of inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for gene: KCNA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to KCNA1.
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to KCNA1.
Added New Source
Rebecca Foulger (Genomics England curator)Source Wessex and West Midlands GLH was added to KCNA1.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Episodic Ataxia; EPISODIC ATAXIA, TYPE 1; Episodic ataxia/myokymia syndrome, 160120; EA1; Myokymia; myokymia with periodic ataxia; Episodic Ataxia, Type 1 for gene: KCNA1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: KCNA1 was added gene: KCNA1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNA1 were set to 17575281 Phenotypes for gene: KCNA1 were set to Episodic Ataxia; EPISODIC ATAXIA, TYPE 1; Episodic ataxia/myokymia syndrome, 160120; EA1; Myokymia; myokymia with periodic ataxia; Episodic Ataxia, Type 1