Albinism or congenital nystagmus
Gene: CACNA1AEnsemblGeneIds (GRCh38): ENSG00000141837
EnsemblGeneIds (GRCh37): ENSG00000141837
OMIM: 601011, Gene2Phenotype
CACNA1A is in 23 panels
1 review
Jay Self (University of Southampton)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Episodic ataxia, type 2, OMIM:108500
- OMIM
- 601011
- Clinvar variants
- Variants in CACNA1A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- DDG2P
- Infantile nystagmus
- Intellectual disability
- Skeletal muscle channelopathy
- Adult onset neurodegenerative disorder
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- Albinism or congenital nystagmus
- Adult onset hereditary spastic paraplegia
- Hereditary ataxia
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Fetal anomalies
- Familial cerebral small vessel disease
- Paroxysmal central nervous system disorders
- Childhood onset hereditary spastic paraplegia
- Familial Meniere Disease
- Congenital myaesthenic syndrome
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CACNA1A were changed from CACNA1A-Related Episodic Ataxia Type 2; Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia; Episodic Ataxia Type 2 (EA2) Episodic Ataxia, Nystagmus-Associated to Episodic ataxia, type 2, OMIM:108500
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: CACNA1A was added gene: CACNA1A was added to Albinism or congenital nystagmus. Sources: Expert Review Green Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1A were set to 19182766 Phenotypes for gene: CACNA1A were set to CACNA1A-Related Episodic Ataxia Type 2; Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia; Episodic Ataxia Type 2 (EA2) Episodic Ataxia, Nystagmus-Associated