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Skeletal muscle channelopathy v2.4 SLC2A1 Arina Puzriakova Tag Q2_21_rating was removed from gene: SLC2A1.
Tag Q2_21_phenotype was removed from gene: SLC2A1.
Tag Q2_21_expert_review was removed from gene: SLC2A1.
Skeletal muscle channelopathy v2.4 SLC2A1 Arina Puzriakova reviewed gene: SLC2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal muscle channelopathy v2.3 SLC2A1 Arina Puzriakova Source Expert Review Red was added to SLC2A1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Skeletal muscle channelopathy v1.39 SLC2A1 Eleanor Williams Tag Q2_21_rating tag was added to gene: SLC2A1.
Tag Q2_21_expert_review tag was added to gene: SLC2A1.
Skeletal muscle channelopathy v1.31 SLC2A1 Eleanor Williams changed review comment from: Comment on list classification: Leaving this gene green but with a recommendation for a 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 SLC2A1 Eleanor Williams Tag Q2_21_rating was removed from gene: SLC2A1.
Skeletal muscle channelopathy v1.30 SLC2A1 Eleanor Williams Classified gene: SLC2A1 as Green List (high evidence)
Skeletal muscle channelopathy v1.30 SLC2A1 Eleanor Williams Added comment: Comment on list classification: Leaving this gene green but with a recommendation for a 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 v1.30 SLC2A1 Eleanor Williams Gene: slc2a1 has been classified as Green List (High Evidence).
Skeletal muscle channelopathy v1.29 SLC2A1 Eleanor Williams Tag Q2_21_rating tag was added to gene: SLC2A1.
Tag Q2_21_phenotype tag was added to gene: SLC2A1.
Skeletal muscle channelopathy v1.29 SLC2A1 Eleanor Williams reviewed gene: SLC2A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Skeletal muscle channelopathy v1.20 SLC2A1 Eleanor Williams Phenotypes for gene: SLC2A1 were changed from Epilepsy, idiopathic generalized, susceptibility to, 12, 614847; Can resemble skeletal muscle channelopathy; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (recessive and dominant).; GLUT1 deficiency syndrome 2, childhood onset, 612126 to Epilepsy, idiopathic generalized, susceptibility to, 12, OMIM:614847; GLUT1 deficiency syndrome 1, infantile onset, severe, OMIM:606777; GLUT1 deficiency syndrome 2, childhood onset, OMIM:612126
Skeletal muscle channelopathy v1.4 SLC2A1 Zornitza Stark reviewed gene: SLC2A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 9, MIM# 601042; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal muscle channelopathy v0.17 SLC2A1 Louise Daugherty Publications for gene SLC2A1 were changed from to 19630075; 26598494; 10980529
Skeletal muscle channelopathy v0.15 SLC2A1 James Polke edited their review of gene: SLC2A1: Changed publications: Gardiner et al 2015 Brain 138, 3567-3580 PMID: 26598494. Wang et al 2000 Hum Mut 16, 224-31 PMID: 10980529. Schneider et al 2009 Mov Disord 24, 1684-8 PMID: 19630075. Suls et al 2009 Ann Neurol 66, 415-9; Changed phenotypes: Can resemble skeletal muscle channelopathy, GLUT1 deficiency syndrome 2, childhood onset, 612126, Epilepsy, idiopathic generalized, susceptibility to, 12, 614847, GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (recessive and dominant). ; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal muscle channelopathy v0.14 SLC2A1 Louise Daugherty Mode of inheritance for gene SLC2A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Epilepsy, idiopathic generalized, susceptibility to, 12, 614847; Can resemble skeletal muscle channelopathy; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (recessive and dominant).; GLUT1 deficiency syndrome 2, childhood onset, 612126 for gene: SLC2A1
Skeletal muscle channelopathy v0.7 SLC2A1 Louise Daugherty Deleted their comment
Skeletal muscle channelopathy v0.7 SLC2A1 Louise Daugherty commented on gene: SLC2A1: 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 SLC2A1 Louise Daugherty reviewed gene: SLC2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal muscle channelopathy v0.5 SLC2A1 James Polke reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Skeletal muscle channelopathy v0.4 SLC2A1 Louise Daugherty Source Expert Review Green was added to SLC2A1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Skeletal muscle channelopathy v0.3 SLC2A1 Louise Daugherty Source NHS GMS was added to SLC2A1.
Skeletal muscle channelopathy v0.2 SLC2A1 Louise Daugherty gene: SLC2A1 was added
gene: SLC2A1 was added to Myotonia congenita. Sources: London North GLH
Mode of inheritance for gene: SLC2A1 was set to