Activity
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9 actions
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| Adult onset neurodegenerative disorder v2.275 | NR4A2 | Sarah Leigh Phenotypes for gene: NR4A2 were changed from Parkinson Disease, Dominant/Recessive (susceptibility to) to Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, OMIM:619911 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.106 | NR4A2 | Louise Daugherty commented on gene: NR4A2: 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 | NR4A2 |
Louise Daugherty Source Expert Review Amber was added to NR4A2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Adult onset neurodegenerative disorder v1.81 | NR4A2 | Louise Daugherty Publications for gene NR4A2 were changed from 25543265; 12827450; 12496759; 24126627; 27012974; 15184637; 15390059; 15276233 to 24126627; 15390059; 15184637; 25543265; 27012974; 19429166; 15276233; 12827450; 28385514; 16532445; 12496759 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.74 | NR4A2 | Louise Daugherty reviewed gene: NR4A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.72 | NR4A2 | Nick Beauchamp reviewed gene: NR4A2: Rating: AMBER; Mode of pathogenicity: ; Publications: 16532445, 12496759, 19429166, 28385514; Phenotypes: Parkinson Disease, Dominant/Recessive (susceptibility to); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.69 | NR4A2 | Louise Daugherty Source NHS GMS was added to NR4A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.67 | NR4A2 | Louise Daugherty Source Yorkshire and North East GLH was added to NR4A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v0.2 | NR4A2 |
Rebecca Foulger gene: NR4A2 was added gene: NR4A2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: NR4A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NR4A2 were set to 25543265; 12827450; 12496759; 24126627; 27012974; 15184637; 15390059; 15276233 Phenotypes for gene: NR4A2 were set to Parkinson Disease, Dominant/Recessive (susceptibility to) |
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