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Neurodegenerative disorders, adult onset v9.12 VPS13C Achchuthan Shanmugasundram Classified gene: VPS13C as Amber List (moderate evidence)
Neurodegenerative disorders, adult onset v9.12 VPS13C Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least 10 unrelated patients available in support of the association of this gene with early-onset Parkinson's disease. Hence, this gene can be promoted to green rating in the next GMS update.
Neurodegenerative disorders, adult onset v9.12 VPS13C Achchuthan Shanmugasundram Gene: vps13c has been classified as Amber List (Moderate Evidence).
Neurodegenerative disorders, adult onset v9.11 VPS13C Achchuthan Shanmugasundram Tag Q3_26_promote_green tag was added to gene: VPS13C.
Neurodegenerative disorders, adult onset v9.11 VPS13C Achchuthan Shanmugasundram reviewed gene: VPS13C: Rating: GREEN; Mode of pathogenicity: None; Publications: 26942284, 28862745, 30452786, 33579389, 34875562; Phenotypes: Parkinson disease 23, early onset, OMIM:616840, autosomal recessive early-onset Parkinson disease 23, MONDO:0014796; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v2.173 VPS13C Ivone Leong Phenotypes for gene: VPS13C were changed from Parkinson disease 23, autosomal recessive, early onset; 616840 to Parkinson disease 23, autosomal recessive, early onset, OMIM:616840
Neurodegenerative disorders, adult onset v1.106 VPS13C Louise Daugherty commented on gene: VPS13C: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Neurodegenerative disorders, adult onset v1.74 VPS13C Louise Daugherty reviewed gene: VPS13C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.73 VPS13C Louise Daugherty Phenotypes for gene: VPS13C were changed from 616840; Parkinson disease 23, autosomal recessive, early onset to Parkinson disease 23, autosomal recessive, early onset; 616840
Neurodegenerative disorders, adult onset v1.72 VPS13C Nick Beauchamp reviewed gene: VPS13C: Rating: AMBER; Mode of pathogenicity: ; Publications: 26942284, 28862745, 28137300; Phenotypes: Parkinson disease 23, autosomal recessive, early onset, 616840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders, adult onset v1.70 VPS13C Louise Daugherty Mode of inheritance for gene VPS13C was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 616840; Parkinson disease 23, autosomal recessive, early onset for gene: VPS13C
Publications for gene VPS13C were changed from to 26942284; 28137300; 28862745
Neurodegenerative disorders, adult onset v1.66 VPS13C Louise Daugherty Source NHS GMS was added to VPS13C.
Neurodegenerative disorders, adult onset v1.65 VPS13C Louise Daugherty Source Yorkshire and North East GLH was added to VPS13C.
Neurodegenerative disorders, adult onset v1.64 VPS13C Louise Daugherty gene: VPS13C was added
gene: VPS13C was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: VPS13C was set to