Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Hereditary ataxia with onset in adulthood v1.188 MRE11 Louise Daugherty commented on gene: MRE11: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Hereditary ataxia with onset in adulthood v1.14 MRE11 Louise Daugherty commented on gene: MRE11: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
Hereditary ataxia with onset in adulthood v1.13 MRE11 Louise Daugherty Source London North GMS was added to MRE11.
Hereditary ataxia with onset in adulthood v1.11 MRE11 James Polke reviewed gene: MRE11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.9 MRE11 Louise Daugherty Added phenotypes Ataxia-telangiectasia-like disorder 1, 604391 for gene: MRE11
Hereditary ataxia with onset in adulthood v1.8 MRE11 Louise Daugherty reviewed gene: MRE11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.7 MRE11 Tracy Lester reviewed gene: MRE11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia-telangiectasia-like disorder 1, 604391; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.2 MRE11 Louise Daugherty Source NHS GMS was added to MRE11.
Hereditary ataxia with onset in adulthood v1.1 MRE11 Louise Daugherty Source Wessex and West Midlands GLH was added to MRE11.
Hereditary ataxia with onset in adulthood v0.2 MRE11 Eleanor Williams gene: MRE11 was added
gene: MRE11 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRE11 were set to Ataxia-Telangiectasia-Like Disorder