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Skeletal muscle channelopathy v2.4 ATP1A2 Arina Puzriakova Tag Q2_21_rating was removed from gene: ATP1A2.
Tag Q2_21_phenotype was removed from gene: ATP1A2.
Tag Q2_21_expert_review was removed from gene: ATP1A2.
Skeletal muscle channelopathy v2.4 ATP1A2 Arina Puzriakova reviewed gene: ATP1A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal muscle channelopathy v2.3 ATP1A2 Arina Puzriakova Source Expert Review Red was added to ATP1A2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Skeletal muscle channelopathy v1.39 ATP1A2 Eleanor Williams Tag Q2_21_rating tag was added to gene: ATP1A2.
Tag Q2_21_expert_review tag was added to gene: ATP1A2.
Skeletal muscle channelopathy v1.31 ATP1A2 Eleanor Williams Tag Q2_21_rating was removed from gene: ATP1A2.
Skeletal muscle channelopathy v1.31 ATP1A2 Eleanor Williams changed review comment from: Comment on list classification: Leaving rating as Green but with a recommendation of a red rating following GMS review, as there is only one case reported associated with a skeletal muscle phenotype.; to: Comment on list classification: Leaving rating as Green but with a recommendation for review by GMS evaluation group as to suitability for this panel. There is only one case reported associated with a skeletal muscle phenotype.
Skeletal muscle channelopathy v1.25 ATP1A2 Eleanor Williams Tag Q2_21_phenotype tag was added to gene: ATP1A2.
Skeletal muscle channelopathy v1.24 ATP1A2 Eleanor Williams Classified gene: ATP1A2 as Green List (high evidence)
Skeletal muscle channelopathy v1.24 ATP1A2 Eleanor Williams Added comment: Comment on list classification: Leaving rating as Green but with a recommendation of a red rating following GMS review, as there is only one case reported associated with a skeletal muscle phenotype.
Skeletal muscle channelopathy v1.24 ATP1A2 Eleanor Williams Gene: atp1a2 has been classified as Green List (High Evidence).
Skeletal muscle channelopathy v1.23 ATP1A2 Eleanor Williams Tag Q2_21_rating tag was added to gene: ATP1A2.
Skeletal muscle channelopathy v1.23 ATP1A2 Eleanor Williams Phenotypes for gene: ATP1A2 were changed from Migraine, familial hemiplegic, 2, 602481; Alternating hemiplegia of childhood 1, 104290; Hypokalaemic periodic paralysis to hypokalaemic periodic paralysis MONDO:0008223
Skeletal muscle channelopathy v1.22 ATP1A2 Eleanor Williams Publications for gene: ATP1A2 were set to 30423015; 15286158; 18056581
Skeletal muscle channelopathy v1.21 ATP1A2 Eleanor Williams reviewed gene: ATP1A2: Rating: RED; Mode of pathogenicity: None; Publications: 30423015; Phenotypes: hypokalaemic periodic paralysis MONDO:0008223; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal muscle channelopathy v1.4 ATP1A2 Zornitza Stark reviewed gene: ATP1A2: Rating: RED; Mode of pathogenicity: None; Publications: 30423015; Phenotypes: Hypokalaemic periodic paralysis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal muscle channelopathy v0.18 ATP2A1 Louise Daugherty Added comment: Comment on publications: added additional publications to support Green rating. NB: SERCA1 is the previous gene symbol for ATP1A2
Skeletal muscle channelopathy v0.17 ATP1A2 Louise Daugherty Publications for gene ATP1A2 were changed from to 30423015; 15286158; 18056581
Skeletal muscle channelopathy v0.15 ATP1A2 James Polke edited their review of gene: ATP1A2: Changed publications: Castaneda et al 2018 Brain 141, 3308-3318 PMID: 30423015. Bassi et al 2004 J Med Genet 41, 621-8 PMID: 15286158. de Vries et al 2007 Neurology 69, 2170-6 PMID: 18056581; Changed phenotypes: Hypokalaemic periodic paralysis, Alternating hemiplegia of childhood 1, 104290, Migraine, familial hemiplegic, 2, 602481 ; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal muscle channelopathy v0.14 ATP1A2 Louise Daugherty Mode of inheritance for gene ATP1A2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Migraine, familial hemiplegic, 2, 602481; Alternating hemiplegia of childhood 1, 104290; Hypokalaemic periodic paralysis for gene: ATP1A2
Skeletal muscle channelopathy v0.7 ATP1A2 Louise Daugherty Deleted their comment
Skeletal muscle channelopathy v0.7 ATP1A2 Louise Daugherty commented on gene: ATP1A2: 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 ATP1A2 Louise Daugherty reviewed gene: ATP1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal muscle channelopathy v0.5 ATP1A2 James Polke reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Skeletal muscle channelopathy v0.4 ATP1A2 Louise Daugherty Source Expert Review Green was added to ATP1A2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Skeletal muscle channelopathy v0.3 ATP1A2 Louise Daugherty Source NHS GMS was added to ATP1A2.
Skeletal muscle channelopathy v0.2 ATP1A2 Louise Daugherty gene: ATP1A2 was added
gene: ATP1A2 was added to Myotonia congenita. Sources: London North GLH
Mode of inheritance for gene: ATP1A2 was set to