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Skeletal muscle channelopathy v2.4 | SLC1A3 |
Arina Puzriakova Tag Q2_21_rating was removed from gene: SLC1A3. Tag Q2_21_phenotype was removed from gene: SLC1A3. Tag Q2_21_expert_review was removed from gene: SLC1A3. |
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Skeletal muscle channelopathy v2.4 | SLC1A3 | Arina Puzriakova reviewed gene: SLC1A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v2.3 | SLC1A3 |
Arina Puzriakova Source Expert Review Red was added to SLC1A3. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Skeletal muscle channelopathy v1.39 | SLC1A3 |
Eleanor Williams Tag Q2_21_rating tag was added to gene: SLC1A3. Tag Q2_21_expert_review tag was added to gene: SLC1A3. |
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Skeletal muscle channelopathy v1.31 | SLC1A3 | Eleanor Williams changed review comment from: Comment on list classification: Leaving the rating as Green but with a recommendation for red rating following GMS review as to whether it is useful to have this gene on panel although variants seem to result in a brain channelopathy rather than a skeletal muscle one.; 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. Variants seem to result in a brain channelopathy rather than a skeletal muscle one. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v1.31 | SLC1A3 | Eleanor Williams Tag Q2_21_rating was removed from gene: SLC1A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v1.29 | SLC1A3 | Eleanor Williams Classified gene: SLC1A3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v1.29 | SLC1A3 | Eleanor Williams Added comment: Comment on list classification: Leaving the rating as Green but with a recommendation for red rating following GMS review as to whether it is useful to have this gene on panel although variants seem to result in a brain channelopathy rather than a skeletal muscle one. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v1.29 | SLC1A3 | Eleanor Williams Gene: slc1a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v1.28 | SLC1A3 | Eleanor Williams Phenotypes for gene: SLC1A3 were changed from Episodic ataxia, type 6, 612656 to Episodic ataxia, type 6, OMIM:612656; episodic ataxia type 6, MONDO:0012982 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v1.27 | SLC1A3 | Eleanor Williams Publications for gene: SLC1A3 were set to 19139306 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v1.26 | SLC1A3 | Eleanor Williams Tag Q2_21_phenotype tag was added to gene: SLC1A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v1.26 | SLC1A3 | Eleanor Williams Tag Q2_21_rating tag was added to gene: SLC1A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v1.26 | SLC1A3 | Eleanor Williams reviewed gene: SLC1A3: Rating: RED; Mode of pathogenicity: None; Publications: 16116111, 19139306, 25497598; Phenotypes: Episodic ataxia, type 6, OMIM:612656, episodic ataxia type 6, MONDO:0012982; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v1.4 | SLC1A3 | Zornitza Stark reviewed gene: SLC1A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Episodic ataxia, type 6, MIM# 612656; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v0.17 | SLC1A3 | Louise Daugherty Publications for gene SLC1A3 were changed from to 19139306 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v0.16 | SLC1A3 | Louise Daugherty Source NHS GMS was added to SLC1A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v0.15 | SLC1A3 | James Polke reviewed gene: SLC1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: de Vries et al 2009 Arch Neurol 66. 97-101 PMID: 19139306; Phenotypes: Episodic ataxia, type 6, 612656; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v0.14 | SLC1A3 |
Louise Daugherty Mode of inheritance for gene SLC1A3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Episodic ataxia, type 6, 612656 for gene: SLC1A3 |
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Skeletal muscle channelopathy v0.13 | SLC1A3 |
Louise Daugherty Source Expert Review Green was added to SLC1A3. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Skeletal muscle channelopathy v0.12 | SLC1A3 |
Louise Daugherty gene: SLC1A3 was added gene: SLC1A3 was added to Myotonia congenita. Sources: London North GLH Mode of inheritance for gene: SLC1A3 was set to |