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| Paroxysmal central nervous system disorders v1.40 | CACNA1A_CAG | Eleanor Williams commented on STR: CACNA1A_CAG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v1.38 | CACNA1A_CAG |
Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19. Source NHS GMS was added to STR: CACNA1A_CAG. |
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| Paroxysmal central nervous system disorders v1.22 | CACNA1A | Arina Puzriakova Phenotypes for gene: CACNA1A were changed from Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500; EA2; Migraine, familial hemiplegic, 1, 141500; Episodic Ataxia, Type 2; familial hemiplegic migraine type 1, 141500; episodic ataxia type 2 (EA2),108500; Spinocerebellar ataxia 6, 183086; Episodic ataxia, type 2, 108500 to Episodic ataxia, type 2, OMIM:108500; Migraine, familial hemiplegic, 1, OMIM:141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v1.21 | CACNA1A_CAG | Arina Puzriakova Phenotypes for STR: CACNA1A_CAG were changed from Spinocerebellar ataxia 6 183086 to Spinocerebellar ataxia 6, OMIM:183086 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.163 | CACNA1A_CAG | Rebecca Foulger Classified STR: CACNA1A_CAG as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.163 | CACNA1A_CAG | Rebecca Foulger Str: cacna1a_cag has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.157 | CACNA1A_CAG | Rebecca Foulger commented on STR: CACNA1A_CAG: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group for clinical indication R66: Paroxysmal central nervous system disorders. Symbol submitted: CACNA1A_CAG. Suggested rating: ?; Comments provided: Triplet repeat. Primarily an ataxia gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.124 | CACNA1A | Rebecca Foulger Marked gene: CACNA1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.124 | CACNA1A | Rebecca Foulger Gene: cacna1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.94 | CACNA1A_CAG | Rebecca Foulger reviewed STR: CACNA1A_CAG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.41 | CACNA1A | Rebecca Foulger Mode of inheritance for gene: CACNA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.27 | CACNA1A | Rebecca Foulger Source NHS GMS was added to CACNA1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.26 | CACNA1A | Rebecca Foulger commented on gene: CACNA1A: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.25 | CACNA1A | James Polke reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.24 | CACNA1A | Rebecca Foulger Source London North GLH was added to CACNA1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.23 | CACNA1A | Rebecca Foulger reviewed gene: CACNA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.22 | CACNA1A | Tracy Lester reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500, Migraine, familial hemiplegic, 1, 141500, Episodic Ataxia, type 2, 108500, Epileptic encephalopathy, early infantile, 42, 617106, Spinocerebellar ataxia 6, 183086; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.21 | CACNA1A | Rebecca Foulger Source Wessex and West Midlands GLH was added to CACNA1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.13 | CACNA1A_CAG | Louise Daugherty Classified STR: CACNA1A_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.13 | CACNA1A_CAG | Louise Daugherty Str: cacna1a_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.12 | CACNA1A_CAG |
Louise Daugherty STR: CACNA1A_CAG was added STR: CACNA1A_CAG was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert list STR tags were added to STR: CACNA1A_CAG. Mode of inheritance for STR: CACNA1A_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: CACNA1A_CAG were set to Spinocerebellar ataxia 6 183086 Review for STR: CACNA1A_CAG was set to GREEN Added comment: Source PanelApp panels : Brain channelopathy v1.48 Sources: Expert list |
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| Paroxysmal central nervous system disorders v0.3 | CACNA1A | Ellen McDonagh Added phenotypes Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500; EA2; Migraine, familial hemiplegic, 1, 141500; Episodic Ataxia, Type 2; familial hemiplegic migraine type 1, 141500; episodic ataxia type 2 (EA2),108500; Spinocerebellar ataxia 6, 183086; Episodic ataxia, type 2, 108500 for gene: CACNA1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.2 | CACNA1A |
Ellen McDonagh gene: CACNA1A was added gene: CACNA1A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1A were set to 17575281; 21734179 Phenotypes for gene: CACNA1A were set to Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500; EA2; Migraine, familial hemiplegic, 1, 141500; Episodic Ataxia, Type 2; familial hemiplegic migraine type 1, 141500; episodic ataxia type 2 (EA2),108500; Spinocerebellar ataxia 6, 183086; Episodic ataxia, type 2, 108500 |
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