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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. |
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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) |
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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. |
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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. |
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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 |
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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) |
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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 |