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Research panel - Severe Paediatric Disorders

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 23 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CACNA1A; Recommended initial gene rating: Green List (high evidence); Phenotypes: Epileptic encephalopathy, early infantile, 42, 617106 (3) | Episodic ataxia, type 2, 108500 (3) | Migraine, familial hemiplegic, 1, 141500 (3) | Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3) | Spinocerebellar ataxia 6, 183086 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:16 p.m. | Last Modified: 20 Feb 2020, 5:16 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:16 p.m.
Last Modified: 20 Feb 2020, 5:16 p.m.
Panel version: 0.12

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene CACNA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene CACNA1A were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Epileptic encephalopathy, early infantile, 42, 617106; Spinocerebellar ataxia 6, 183086; Migraine, familial hemiplegic, 1, 141500; Episodic ataxia, type 2, 108500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 for gene: CACNA1A

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Epileptic encephalopathy, early infantile, 42, 617106; Spinocerebellar ataxia 6, 183086; Migraine, familial hemiplegic, 1, 141500; Episodic ataxia, type 2, 108500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 for gene: CACNA1A

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Epileptic encephalopathy, early infantile, 42, 617106; Spinocerebellar ataxia 6, 183086; Migraine, familial hemiplegic, 1, 141500; Episodic ataxia, type 2, 108500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 for gene: CACNA1A

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Spinocerebellar ataxia 6, 183086; Episodic ataxia, type 2, 108500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500; Epileptic encephalopathy, early infantile, 42, 617106; Migraine, familial hemiplegic, 1, 141500 for gene: CACNA1A

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to CACNA1A.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to CACNA1A. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, 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 Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: CACNA1A was set to