Infantile nystagmus
Gene: CACNA1AComment on list classification: Expert review greenCreated: 19 Dec 2016, 3:51 p.m.
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
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
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.
Publications for CACNA1A were set to 19182766
Mode of inheritance for CACNA1A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
CACNA1A was created by ellenmcdonagh
CACNA1A was added to Infantile nystagmuspanel. Sources: UKGTN