Alternating Hemiplegia and Hemiplegic Migraine
Gene: KCNA1EnsemblGeneIds (GRCh38): ENSG00000111262
EnsemblGeneIds (GRCh37): ENSG00000111262
OMIM: 176260, Gene2Phenotype
KCNA1 is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Variants in this gene are classically associated with episodic cerebellar ataxia and dysarthria, and interictal myokymia. Atypical presentations, including migraine have also been reported.Created: 8 Oct 2020, 10:01 a.m. | Last Modified: 8 Oct 2020, 10:01 a.m.
Panel Version: 0.23
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Episodic ataxia/myokymia syndrome, MIM# 160120
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Victorian Clinical Genetics Services
- Phenotypes
-
- Episodic ataxia/myokymia syndrome, MIM# 160120
- OMIM
- 176260
- Clinvar variants
- Variants in KCNA1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Paroxysmal Dyskinesia
- Regression
- Additional findings_Paediatric
- Brain Channelopathies
- Mendeliome
- BabyScreen+ newborn screening
- Alternating Hemiplegia and Hemiplegic Migraine
- Renal Tubulopathies and related disorders
- Ataxia - paediatric
- Genetic Epilepsy
- Skeletal Muscle Channelopathies
- Episodic Ataxia
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kcna1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: KCNA1 were changed from to Episodic ataxia/myokymia syndrome, MIM# 160120
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: KCNA1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: KCNA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kcna1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: KCNA1 was added gene: KCNA1 was added to Alternating hemiplegia including hemiplegic migraine_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KCNA1 was set to Unknown