Hereditary ataxia with onset in adulthood
Gene: CACNA1GEnsemblGeneIds (GRCh38): ENSG00000006283
EnsemblGeneIds (GRCh37): ENSG00000006283
OMIM: 604065, Gene2Phenotype
CACNA1G is in 10 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
On Sheffield panel. Phenotype is relevant and lots of families published. 6 disease causing mutations on HGMD.Created: 27 Apr 2019, 7:39 p.m.
Louise Daugherty (Genomics England Curator)
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
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.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Ataxic phenotypes linked to GoF missense variants. Functional evidence provided for a number of missense variants. Two recurrent missense variants reported: p.Arg1715His and p.Ala961ThrCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 42, 616795 and early-onset SCA42 with neurodevelopmental deficits, 618087
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
- Phenotypes
-
- Spinocerebellar ataxia 42, 616795
- early-onset SCA42 with neurodevelopmental deficits, 618087
- OMIM
- 604065
- Clinvar variants
- Variants in CACNA1G
- Penetrance
- None
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
- Cerebellar hypoplasia
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Fetal anomalies
- Adult onset neurodegenerative disorder
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GMS was added to CACNA1G.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Spinocerebellar ataxia 42, 616795; early-onset SCA42 with neurodevelopmental deficits, 618087 for gene: CACNA1G
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CACNA1G.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to CACNA1G.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked panel against panel constituents. Ready to promote to version 1.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: CACNA1G were changed from to Spinocerebellar ataxia 42, 616795
Created, Added New Source, Set mode of inheritance, Set mode of pathogenicity
Eleanor Williams (Genomics England Curator)gene: CACNA1G was added gene: CACNA1G was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mode of pathogenicity for gene: CACNA1G was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments