| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Adult onset neurodegenerative disorder v2.147 | ATP6AP2 | Ivone Leong Phenotypes for gene: ATP6AP2 were changed from ?Parkinsonism with spasticity, X-linked 300911; Mental retardation, X-linked, syndromic, Hedera type 300423 to ?Parkinsonism with spasticity, X-linked, OMIM:300911; Mental retardation, X-linked, syndromic, Hedera type, OMIM:300423 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.106 | ATP6AP2 | Louise Daugherty commented on gene: ATP6AP2: 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 v1.105 | ATP6AP2 |
Louise Daugherty Source Expert Review Amber was added to ATP6AP2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.74 | ATP6AP2 | Louise Daugherty commented on gene: ATP6AP2: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.72 | ATP6AP2 | Nick Beauchamp reviewed gene: ATP6AP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Parkinsonism with spasticity, X-linked 300911, Mental retardation, X-linked, syndromic, Hedera type 300423; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.67 | ATP6AP2 | Louise Daugherty Source Yorkshire and North East GLH was added to ATP6AP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.7 | ATP6AP2 | Louise Daugherty reviewed gene: ATP6AP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.6 | ATP6AP2 | Anthony Dallosso reviewed gene: ATP6AP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Parkinsonism with spasticity, X-linked 300911, Mental retardation, X-linked, syndromic, Hedera type 300423; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.5 | ATP6AP2 | Louise Daugherty Source NHS GMS was added to ATP6AP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.4 | ATP6AP2 | Louise Daugherty Source South West GLH was added to ATP6AP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v0.2 | ATP6AP2 | Rebecca Foulger Tag watchlist tag was added to gene: ATP6AP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v0.2 | ATP6AP2 |
Rebecca Foulger gene: ATP6AP2 was added gene: ATP6AP2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ATP6AP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ATP6AP2 were set to 23595882 Phenotypes for gene: ATP6AP2 were set to ?Parkinsonism with spasticity, X-linked 300911; Mental retardation, X-linked, syndromic, Hedera type 300423 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||