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Hereditary neuropathy v1.473 SLC12A6 Arina Puzriakova Phenotypes for gene: SLC12A6 were changed from Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum to Charcot-Marie-Tooth disease, axonal, type 2II, OMIM:620068; Agenesis of the corpus callosum with peripheral neuropathy, OMIM:218000
Hereditary neuropathy v1.455 SLC12A6 Eleanor Williams commented on gene: SLC12A6: Removed the for-review tag as this is a 100,000 genomes project panel that does not need GMS approval for changes.
Hereditary neuropathy v1.455 SLC12A6 Eleanor Williams Added comment: Comment on mode of inheritance: Changing the mode of inheritance as this is a 100K only panel.
Hereditary neuropathy v1.455 SLC12A6 Eleanor Williams Mode of inheritance for gene: SLC12A6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary neuropathy v1.454 SLC12A6 Eleanor Williams Tag for-review was removed from gene: SLC12A6.
Hereditary neuropathy v1.374 SLC12A6 Sarah Leigh Publications for gene: SLC12A6 were set to 12368912; 31439721; 27485015; 16606917; 17893295
Hereditary neuropathy v1.373 SLC12A6 Sarah Leigh Publications for gene: SLC12A6 were set to 12368912; 31439721; 27485015; 12368912; 16606917; 17893295
Hereditary neuropathy v1.372 SLC12A6 Sarah Leigh Publications for gene: SLC12A6 were set to 12368912; 31439721; 27485015
Hereditary neuropathy v1.371 SLC12A6 Sarah Leigh changed review comment from: For-review tag has been added as it mabe appropriate for the MOI to be changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal at the next major review, to ensure that de novo heterozgous variants are identified.; to: For-review tag has been added as it maybe appropriate to change the MOI to BOTH monoallelic and biallelic, autosomal or pseudoautosomal at the next major review, to ensure that de novo heterozgous variants are identified.
Hereditary neuropathy v1.371 SLC12A6 Sarah Leigh commented on gene: SLC12A6: For-review tag has been added as it mabe appropriate for the MOI to be changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal at the next major review, to ensure that de novo heterozgous variants are identified.
Hereditary neuropathy v1.371 SLC12A6 Sarah Leigh Tag for-review tag was added to gene: SLC12A6.
Hereditary neuropathy v1.371 SLC12A6 Sarah Leigh reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 12368912, 16606917, 17893295; Phenotypes: Agenesis of the corpus callosum with peripheral neuropathy 218000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary neuropathy v1.371 SLC12A6 Sarah Leigh Publications for gene: SLC12A6 were set to 12368912; 31439721
Hereditary neuropathy v1.370 SLC12A6 Sarah Leigh Publications for gene: SLC12A6 were set to 12368912
Hereditary neuropathy v1.352 SLC12A6 Louise Daugherty edited their review of gene: SLC12A6: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.80 SLC12A6 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 SLC12A6 Louise Daugherty commented on gene: SLC12A6: 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.
Hereditary neuropathy v1.63 SLC12A6 Louise Daugherty commented on gene: SLC12A6: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.60 SLC12A6 Louise Daugherty Added phenotypes Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum for gene: SLC12A6
Publications for gene SLC12A6 were changed from to 12368912
Hereditary neuropathy v1.58 SLC12A6 Natalie Forrester reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: ; Publications: 12368912; Phenotypes: Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.56 SLC12A6 Louise Daugherty Source South West GLH was added to SLC12A6.
Hereditary neuropathy v1.55 SLC12A6 Louise Daugherty reviewed gene: SLC12A6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 SLC12A6 James Polke reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.51 SLC12A6 Louise Daugherty Source NHS GMS was added to SLC12A6.
Hereditary neuropathy v1.50 SLC12A6 Louise Daugherty Source London North GLH was added to SLC12A6.
Rating Changed from Green List (high evidence) to Green List (high evidence)