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Neurodegenerative disorders - adult onset v1.101 MVK Louise Daugherty commented on gene: MVK: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.100 MVK Louise Daugherty Source Wessex and West Midlands GLH was added to MVK.
Neurodegenerative disorders - adult onset v1.99 MVK Tracy Lester reviewed gene: MVK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mevalonic aciduria 610377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.74 MVK Louise Daugherty commented on gene: MVK: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.72 MVK Nick Beauchamp reviewed gene: MVK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mevalonic aciduria 610377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.67 MVK Louise Daugherty Source Yorkshire and North East GLH was added to MVK.
Neurodegenerative disorders - adult onset v1.41 MVK Louise Daugherty Classified gene: MVK as Red List (low evidence)
Neurodegenerative disorders - adult onset v1.41 MVK Louise Daugherty Gene: mvk has been classified as Red List (Low Evidence).
Neurodegenerative disorders - adult onset v1.11 MVK Louise Daugherty commented on gene: MVK: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.10 MVK James Polke reviewed gene: MVK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.8 MVK Louise Daugherty Source London North GLH was added to MVK.
Neurodegenerative disorders - adult onset v1.7 MVK Louise Daugherty reviewed gene: MVK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.6 MVK Anthony Dallosso reviewed gene: MVK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mevalonic aciduria, 610377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.5 MVK Louise Daugherty Source NHS GMS was added to MVK.
Neurodegenerative disorders - adult onset v1.4 MVK Louise Daugherty Source South West GLH was added to MVK.
Neurodegenerative disorders - adult onset v0.2 MVK Rebecca Foulger gene: MVK was added
gene: MVK was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MVK were set to 24896178; 26503795
Phenotypes for gene: MVK were set to Mevalonic aciduria 610377