Congenital myaesthenic syndrome
Gene: CACNA1AEnsemblGeneIds (GRCh38): ENSG00000141837
EnsemblGeneIds (GRCh37): ENSG00000141837
OMIM: 601011, Gene2Phenotype
CACNA1A is in 23 panels
2 reviews
Louise Daugherty (Genomics England Curator)
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)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Wessex and West Midlands GLH
- Phenotypes
-
- Lambert-Eaton myasthenic syndrome, MONDO:0018556
- OMIM
- 601011
- Clinvar variants
- Variants in CACNA1A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Infantile nystagmus
- Skeletal muscle channelopathy
- Adult onset neurodegenerative disorder
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- Albinism or congenital nystagmus
- Adult onset hereditary spastic paraplegia
- Hereditary ataxia
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Fetal anomalies
- Familial cerebral small vessel disease
- Paroxysmal central nervous system disorders
- Childhood onset hereditary spastic paraplegia
- Familial Meniere Disease
- Congenital myaesthenic syndrome
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CACNA1A were changed from episodic ataxia plus myasthenic syndrome; hemiplegic migraine plus disturbed NMJ function to Lambert-Eaton myasthenic syndrome, MONDO:0018556
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: CACNA1A were set to
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
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: CACNA1A were changed from to episodic ataxia plus myasthenic syndrome
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
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CACNA1A.
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