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| Skeletal muscle channelopathy v2.4 | CACNA1A |
Arina Puzriakova Tag Q2_21_rating was removed from gene: CACNA1A. Tag Q2_21_phenotype was removed from gene: CACNA1A. Tag Q2_21_expert_review was removed from gene: CACNA1A. |
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| Skeletal muscle channelopathy v2.4 | CACNA1A | Arina Puzriakova reviewed gene: CACNA1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v2.3 | CACNA1A |
Arina Puzriakova Source Expert Review Red was added to CACNA1A. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Skeletal muscle channelopathy v1.39 | CACNA1A |
Eleanor Williams Tag Q2_21_rating tag was added to gene: CACNA1A. Tag Q2_21_expert_review tag was added to gene: CACNA1A. |
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| Skeletal muscle channelopathy v1.32 | CACNA1A | Arina Puzriakova Phenotypes for gene: CACNA1A were changed from Episodic ataxia 2 with periodic paralysis; Epileptic encephalopathy, early infantile, 42 OMIM:617106; Migraine, familial hemiplegic, 1 OMIM:141500; Episodic ataxia, type 2 OMIM:108500 to Episodic ataxia, type 2, OMIM:108500; Migraine, familial hemiplegic, 1, OMIM:141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v1.31 | CACNA1A | Eleanor Williams Tag Q2_21_rating was removed from gene: CACNA1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v1.31 | CACNA1A | Eleanor Williams changed review comment from: Comment on list classification: Leaving rating as green but with a recommendation for red rating following GMS review. As reported by Zornitza Stark variants in this gene appear to be associated with brain channelopathies rather than skeletal muscle.; to: Comment on list classification: Leaving rating as Green but with a recommendation for review by the GMS test evaluation group as to suitability for this panel. As reported by Zornitza Stark variants in this gene appear to be associated with brain channelopathies rather than skeletal muscle. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v1.25 | CACNA1A | Eleanor Williams Classified gene: CACNA1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v1.25 | CACNA1A | Eleanor Williams Added comment: Comment on list classification: Leaving rating as green but with a recommendation for red rating following GMS review. As reported by Zornitza Stark variants in this gene appear to be associated with brain channelopathies rather than skeletal muscle. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v1.25 | CACNA1A | Eleanor Williams Gene: cacna1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v1.24 | CACNA1A |
Eleanor Williams Tag Q2_21_rating tag was added to gene: CACNA1A. Tag Q2_21_phenotype tag was added to gene: CACNA1A. |
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| Skeletal muscle channelopathy v1.24 | CACNA1A | Eleanor Williams reviewed gene: CACNA1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v1.9 | CACNA1A | Eleanor Williams Phenotypes for gene: CACNA1A were changed from Episodic ataxia 2 with periodic paralysis; Epileptic encephalopathy, early infantile, 42, 617106; Migraine, familial hemiplegic, 1, 141500; Episodic ataxia, type 2, 108500 to Episodic ataxia 2 with periodic paralysis; Epileptic encephalopathy, early infantile, 42 OMIM:617106; Migraine, familial hemiplegic, 1 OMIM:141500; Episodic ataxia, type 2 OMIM:108500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v1.4 | CACNA1A | Zornitza Stark reviewed gene: CACNA1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Episodic ataxia, type 2, MIM# 108500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v0.17 | CACNA1A | Louise Daugherty Publications for gene CACNA1A were changed from to 29442233; 8734765; 17575281 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v0.15 | CACNA1A | James Polke edited their review of gene: CACNA1A: Changed publications: Park et al 2018 Acta Neurologica Belgica 118, 137-139 PMID: 29442233. Jen et al 2007 Brain 130, 2484-93 PMID: 17575281. Terwindt et al 1996 Cephalalgia 16, 153-5 PMID: 8734765; Changed phenotypes: Episodic ataxia 2 with periodic paralysis, Episodic ataxia, type 2, 108500, Migraine, familial hemiplegic, 1, 141500, Epileptic encephalopathy, early infantile, 42, 617106; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v0.14 | CACNA1A |
Louise Daugherty Mode of inheritance for gene CACNA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Episodic ataxia 2 with periodic paralysis; Epileptic encephalopathy, early infantile, 42, 617106; Migraine, familial hemiplegic, 1, 141500; Episodic ataxia, type 2, 108500 for gene: CACNA1A |
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| Skeletal muscle channelopathy v0.7 | CACNA1A | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v0.7 | CACNA1A | Louise Daugherty commented on gene: CACNA1A: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v0.6 | CACNA1A | Louise Daugherty reviewed gene: CACNA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v0.5 | CACNA1A | James Polke reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v0.4 | CACNA1A |
Louise Daugherty Source Expert Review Green was added to CACNA1A. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Skeletal muscle channelopathy v0.3 | CACNA1A | Louise Daugherty Source NHS GMS was added to CACNA1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v0.2 | CACNA1A |
Louise Daugherty gene: CACNA1A was added gene: CACNA1A was added to Myotonia congenita. Sources: London North GLH Mode of inheritance for gene: CACNA1A was set to |
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