Infantile nystagmus

Gene: CACNA1A

Green List (high evidence)

CACNA1A (calcium voltage-gated channel subunit alpha1 A)
EnsemblGeneIds (GRCh38): ENSG00000141837
EnsemblGeneIds (GRCh37): ENSG00000141837
OMIM: 601011, Gene2Phenotype
CACNA1A is in 27 panels

2 reviews

Alice Gardham (Genomics England)

Comment on list classification: Expert review green
Created: 19 Dec 2016, 3:51 p.m.

Mervyn Thomas (University of Leicester)

Green List (high evidence)

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: 19182766
Created: 28 Nov 2016, 8:26 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
infantile nystagmus, ataxia, hemiplegic migraine

Publications

History Filter Activity

21 Dec 2016, Gel status: 4

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.

19 Dec 2016, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for CACNA1A were set to 19182766

19 Dec 2016, Gel status: 4

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for CACNA1A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

29 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CACNA1A was created by ellenmcdonagh

29 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CACNA1A was added to Infantile nystagmuspanel. Sources: UKGTN