Infantile nystagmus
Gene: CACNA1AEnsemblGeneIds (GRCh38): ENSG00000141837
EnsemblGeneIds (GRCh37): ENSG00000141837
OMIM: 601011, Gene2Phenotype
CACNA1A is in 23 panels
2 reviews
Alice Gardham (Genomics England)
Comment on list classification: Expert review greenCreated: 19 Dec 2016, 3:51 p.m.
Mervyn Thomas (University of Leicester)
This gene is typically associated with episodic ataxia, however this can present later in life. Thus the initial presentation can be confied to infantile nystagmus with no other ophthalmic features. PMID: 19182766Created: 28 Nov 2016, 8:26 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
infantile nystagmus, ataxia, hemiplegic migraine
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Episodic ataxia, type 2, OMIM:108500
- OMIM
- 601011
- Clinvar variants
- Variants in CACNA1A
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Early onset dystonia
- Hereditary spastic paraplegia
- Early onset or syndromic epilepsy
- Albinism or congenital nystagmus
- Dystonia, chorea or related movement disorder, childhood onset
- DDG2P
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Familial cerebral small vessel disease
- Intellectual disability
- Fetal anomalies
- Hereditary spastic paraplegia, childhood onset
- Familial Meniere Disease
- Neurodegenerative disorders, adult onset
- Hereditary ataxia, adult onset
- Hereditary spastic paraplegia, adult onset
- Dystonia, chorea or related movement disorder, adult onset
- Infantile nystagmus
- Congenital myaesthenic syndrome
- Hereditary ataxia
- Ataxia and cerebellar anomalies - childhood onset
- Skeletal muscle channelopathy
- Paroxysmal central nervous system disorders
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CACNA1A were changed from CACNA1A-Related Episodic Ataxia Type 2; Episodic Ataxia Type 2 (EA2) Episodic Ataxia, Nystagmus-Associated; Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia to Episodic ataxia, type 2, OMIM:108500
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)21/Dec/2016: panel revised according to expert review, addition of green genes from the Ocular and oculo-cutaneous albinism (Version 1.1) gene panel and further curation.
Set publications
Alice Gardham (Genomics England)Publications for CACNA1A were set to 19182766
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for CACNA1A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Created
Ellen McDonagh (Genomics England Curator)CACNA1A was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)CACNA1A was added to Infantile nystagmuspanel. Sources: UKGTN