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Hereditary neuropathy v1.387 ATM Arina Puzriakova Phenotypes for gene: ATM were changed from Hereditary Neuropathies; Ataxia-telangiectasia to Ataxia-telangiectasia, OMIM:208900; Hereditary Neuropathies
Hereditary neuropathy v1.352 ATM Louise Daugherty edited their review of gene: ATM: 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 v1.331 TTR Ellen McDonagh edited their review of gene: TTR: Added comment: The 'treatable' tag has been added due to new therapies available that target this gene. Inotersen is an antisense oligonucleotide inhibitor of mutant and wild-type human transthyretin (TTR), developed and approved by NICE for the treatment of hereditary transthyretin amyloidosis (hATTR) (PMID: 30120737, https://www.nice.org.uk/guidance/hst9/chapter/1-Recommendations). Patisiran is a small interfering RNA (siRNA) molecule that targets the transthyretin gene (TTR) messenger mRNA (mRNA), to suppress both mutant and wild-type amyloid transthyretin (ATTR) protein production. This drug has been approved by NHSE for treatment of transthyretin-mediated amyloidosis (https://www.bbc.co.uk/news/health-48907976).; Changed publications: 30878017, 31131842, 31118583, 31111153, 30120737; Changed phenotypes: Amyloidosis, hereditary, transthyretin-related 105210
Hereditary neuropathy v1.80 ATM Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 ATM Louise Daugherty commented on gene: ATM: 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 ATM Louise Daugherty commented on gene: ATM: 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 ATM Louise Daugherty Added phenotypes Hereditary Neuropathies; Ataxia-telangiectasia for gene: ATM
Hereditary neuropathy v1.58 ATM Natalie Forrester reviewed gene: ATM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Neuropathies, Ataxia-telangiectasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.56 ATM Louise Daugherty Source South West GLH was added to ATM.
Hereditary neuropathy v1.55 ATM Louise Daugherty reviewed gene: ATM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 ATM James Polke reviewed gene: ATM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.51 ATM Louise Daugherty Source NHS GMS was added to ATM.
Hereditary neuropathy v1.50 ATM Louise Daugherty Source London North GLH was added to ATM.
Rating Changed from Green List (high evidence) to Green List (high evidence)