Genes in panel

Neurodegenerative disorders - adult onset

Gene: CACNA1A

Red List (low evidence)

CACNA1A (calcium voltage-gated channel subunit alpha1 A)
EnsemblGeneIds (GRCh38): ENSG00000141837
EnsemblGeneIds (GRCh37): ENSG00000141837
OMIM: 601011, Gene2Phenotype
CACNA1A is in 24 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

SCA6 - late-onset progressive cerebellar ataxia with onset of gait difficulties at age 50, as well as other variable phenotypes. >3 cases, SCA6 - STR mutation. , eg EIEE42, EA2, FHM1. In approximately 20% of cases of FHM, the disease is associated with a mild permanent cerebellar ataxia which may be progressive (PCA) - 10 unrelated cases had the same T666M variant. oTher variants also reported. Episodic ataxia is a genetically heterogeneous neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia - LOF variants. Several cases
Created: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
episodic ataxia type 2 (EA2),108500; familial hemiplegic migraine type 1, 141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia; Dystonia; Spinocerebellar ataxia 6; Episodic ataxia, type 2

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
episodic ataxia type 2 (EA2),108500; familial hemiplegic migraine type 1, 141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia; Dystonia; Spinocerebellar ataxia 6; Episodic ataxia, type 2

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 5:35 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

History Filter Activity

20 Sep 2019, Gel status: 1

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to CACNA1A. Rating Changed from Green List (high evidence) to Red List (low evidence)

2 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to CACNA1A.

23 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to CACNA1A.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CACNA1A.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to CACNA1A.

25 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Comment on phenotypes: amended

18 Dec 2018, Gel status: 4

Added Tag

Rebecca Foulger (Genomics England curator)

Tag treatable tag was added to gene: CACNA1A.

18 Dec 2018, Gel status: 4

Added Tag

Rebecca Foulger (Genomics England curator)

Tag nucleotide-repeat-expansion tag was added to gene: CACNA1A.

18 Dec 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes Dystonia for gene: CACNA1A

18 Dec 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes episodic ataxia type 2 (EA2),108500; familial hemiplegic migraine type 1, 141500 for gene: CACNA1A

18 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: CACNA1A was added gene: CACNA1A was added to Neurodegenerative disorders - adult onset. 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 21734179; 17575281 Phenotypes for gene: CACNA1A were set to Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia; Spinocerebellar ataxia 6; Episodic ataxia, type 2