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| Adult onset neurodegenerative disorder 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.74 | VPS13C | Louise Daugherty reviewed gene: VPS13C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder 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 |
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| Adult onset neurodegenerative disorder v1.66 | VPS13C | Louise Daugherty Source NHS GMS was added to VPS13C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.65 | VPS13C | Louise Daugherty Source Yorkshire and North East GLH was added to VPS13C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder 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 |
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