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  3. CACNA1A
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Congenital 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 17 panels

3 reviews

Anna Ritchie (Victorian Clinical Genetics Services)

I don't know

Four newborns, all presenting with hypotonia, mild facial dysmorphic features, encephalopathy, and seizures were born
from consanguineous parents. Testing was only performed on two of the newborns in the family. A novel homozygous nonsense c.2767C>T p.(Arg932*) variant in the exon 19 of the CACNA1A gene (NM_001127221.1). Segregation analysis showed that both parents were heterozygous carriers and they were diagnosed with EA2.
Created: 1 Nov 2021, 4:53 a.m. | Last Modified: 1 Nov 2021, 4:53 a.m.
Panel Version: 0.9572

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 1 Nov 2021, 4:53 a.m.
Last Modified: 1 Nov 2021, 4:53 a.m.
Panel version: Imported from Mendeliome panel version 0.9572

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease associations. Abnormal eye movements, in particular nystagmus reported in all.
Created: 24 Oct 2021, 6:10 a.m. | Last Modified: 24 Oct 2021, 6:10 a.m.
Panel Version: 0.13

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developemental and epileptic encephalopathy 42, MIM# 617106; Episodic ataxia, type 2, MIM# 108500; Migraine, familial hemiplegic, 1, MIM# 141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500; Spinocerebellar ataxia 6, MIM# 183086

Created: 24 Oct 2021, 6:10 a.m.
Last Modified: 24 Oct 2021, 6:10 a.m.
Panel version: 0.13

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Onset of episodic ataxia usually in childhood or adolescence.
Sources: Expert list
Created: 16 Apr 2020, 10:50 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Episodic ataxia, type 2 MIM#108500

Created: 16 Apr 2020, 10:50 p.m.

Panel version: Imported from Mendeliome panel version Imported from Ataxia - paediatric panel version 0.89

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
  • Expert list
Phenotypes
  • Developemental and epileptic encephalopathy 42, MIM# 617106
  • Episodic ataxia, type 2, MIM# 108500
  • Migraine, familial hemiplegic, 1, MIM# 141500
  • Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500
  • Spinocerebellar ataxia 6, MIM# 183086
OMIM
601011
Clinvar variants
Variants in CACNA1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cacna1a has been classified as Green List (High Evidence).

24 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CACNA1A were changed from Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia; CACNA1A-Related Episodic Ataxia Type 2; Episodic Ataxia Type 2 (EA2) Episodic Ataxia, Nystagmus-Associated to Developemental and epileptic encephalopathy 42, MIM# 617106; Episodic ataxia, type 2, MIM# 108500; Migraine, familial hemiplegic, 1, MIM# 141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500; Spinocerebellar ataxia 6, MIM# 183086

6 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia; CACNA1A-Related Episodic Ataxia Type 2; Episodic Ataxia Type 2 (EA2) Episodic Ataxia, Nystagmus-Associated for gene: CACNA1A

6 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CACNA1A was added gene: CACNA1A was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1A were set to 19182766 Phenotypes for gene: CACNA1A were set to Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia; CACNA1A-Related Episodic Ataxia Type 2; Episodic Ataxia Type 2 (EA2) Episodic Ataxia, Nystagmus-Associated