Ataxia and cerebellar anomalies - narrow panel
Gene: CACNA1AEnsemblGeneIds (GRCh38): ENSG00000141837
EnsemblGeneIds (GRCh37): ENSG00000141837
OMIM: 601011, Gene2Phenotype
CACNA1A is in 23 panels
2 reviews
Eleanor Williams (Genomics England Curator)
The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
Sarah Leigh (Genomics England Curator)
PMIDs: 36063114; 34267336; 33445191; 27250579 all report biallelic CACNA1A variants in cases of Developmental and epileptic encephalopathy 42 (OMIM:617106), therefore the mode of inheritance should be changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal.Created: 29 Sep 2022, 1:05 p.m. | Last Modified: 29 Sep 2022, 1:05 p.m.
Panel Version: 2.305
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Developmental and epileptic encephalopathy 42, OMIM:617106
- developmental and epileptic encephalopathy, 42, MONDO:0014917
- Episodic ataxia, type 2, OMIM:108500
- Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
- OMIM
- 601011
- Clinvar variants
- Variants in CACNA1A
- Penetrance
- None
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Fetal anomalies
- 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
- Early onset or syndromic epilepsy
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Familial cerebral small vessel disease
- Paroxysmal central nervous system disorders
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Familial Meniere Disease
- Congenital myaesthenic syndrome
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Removed Tag, Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q3_22_MOI was removed from gene: CACNA1A. Tag Q3_22_NHS_review was removed from gene: CACNA1A.
Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to CACNA1A. Mode of inheritance for gene CACNA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: CACNA1A were changed from Episodic ataxia, type 2, OMIM:108500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500 to Developmental and epileptic encephalopathy 42, OMIM:617106; developmental and epileptic encephalopathy, 42, MONDO:0014917; Episodic ataxia, type 2, OMIM:108500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_22_MOI tag was added to gene: CACNA1A. Tag Q3_22_NHS_review tag was added to gene: CACNA1A.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CACNA1A were changed from Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia; Spinocerebellar ataxia 6; Episodic ataxia, type 2 to Episodic ataxia, type 2, OMIM:108500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: CACNA1A was added gene: CACNA1A was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CACNA1A were set to Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia; Spinocerebellar ataxia 6; Episodic ataxia, type 2