Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Adult onset dystonia, chorea or related movement disorder v0.88 | NR4A2 | Louise Daugherty edited their review of gene: NR4A2: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.50 | NR4A2 | Louise Daugherty reviewed gene: NR4A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.49 | NR4A2 | Emily Jones reviewed gene: NR4A2: Rating: RED; Mode of pathogenicity: ; Publications: 15184637, 12496759, 15276233, 12827450, 27012974, 24126627, 15390059, 25543265; Phenotypes: Parkinson Disease, Dominant/Recessive (susceptibility to); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.48 | NR4A2 |
Louise Daugherty Added phenotypes Parkinson Disease, Dominant/Recessive (susceptibility to) for gene: NR4A2 Publications for gene NR4A2 were changed from 15184637; 12496759; 15276233; 12827450; 27012974; 24126627; 15390059; 25543265 to 12827450; 25543265; 15390059; 24126627; 27012974; 15184637; 12496759; 15276233 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.47 | NR4A2 | Louise Daugherty Source NHS GMS was added to NR4A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.46 | NR4A2 | Louise Daugherty Source South West GLH was added to NR4A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.2 | NR4A2 |
Ellen McDonagh gene: NR4A2 was added gene: NR4A2 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: NR4A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NR4A2 were set to 15184637; 12496759; 15276233; 12827450; 27012974; 24126627; 15390059; 25543265 Phenotypes for gene: NR4A2 were set to Parkinson Disease, Dominant/Recessive (susceptibility to) |