Congenital myaesthenic syndrome

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

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Leave as Red, awaiting more information on this gene and potential disease association.
Created: 16 Oct 2019, 1:42 p.m. | Last Modified: 16 Oct 2019, 1:42 p.m.
Panel Version: 1.70
Review and rating from Michael Oldridge (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust), submitted by 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.
Created: 30 Apr 2019, 9:30 a.m.

Michael Oldridge (NHS)

Red List (low evidence)

David Beeson info - CACNA1A. antibodies to gene protein cause lambert-Eaton myasthenic syndrome. Usually mutations in this gene cause episodic ataxia, or hemiplegic migraine or spinal cerebella ataxia, but have recently come across case where EMG evidence of decrement and fatiguable muscle weakness consistent with a myasthenic syndrome. Dominant. Within family pedigree. No other example for episodic ataxia plus myasthenic syndrome although one previous report of hemiplegic migraine plus disturbed NMJ function. Majority of mutations lead to episodic ataxia/hemiplegic migraine.
Created: 29 Apr 2019, 4:33 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

History Filter Activity

16 Oct 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CACNA1A were set to

16 Oct 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CACNA1A were changed from episodic ataxia plus myasthenic syndrome to episodic ataxia plus myasthenic syndrome; hemiplegic migraine plus disturbed NMJ function

16 Oct 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CACNA1A were changed from to episodic ataxia plus myasthenic syndrome

16 Oct 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CACNA1A.

29 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CACNA1A was added gene: CACNA1A was added to Congenital myaesthenic syndrome. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: CACNA1A was set to