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| Adult onset dystonia, chorea or related movement disorder v0.88 | BDNF | Louise Daugherty edited their review of gene: BDNF: 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 | BDNF | Louise Daugherty reviewed gene: BDNF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.49 | BDNF | Emily Jones reviewed gene: BDNF: Rating: RED; Mode of pathogenicity: ; Publications: 23649659, 27780732, 30643666; Phenotypes: Central hypoventilation syndrome, congenital 209880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.48 | BDNF |
Louise Daugherty Added phenotypes Central hypoventilation syndrome, congenital 209880 for gene: BDNF Publications for gene BDNF were changed from 23649659; 27780732 to 23649659; 27780732; 30643666 |
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| Adult onset dystonia, chorea or related movement disorder v0.47 | BDNF | Louise Daugherty Source NHS GMS was added to BDNF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.46 | BDNF | Louise Daugherty Source South West GLH was added to BDNF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.2 | BDNF |
Ellen McDonagh gene: BDNF was added gene: BDNF was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: BDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BDNF were set to 23649659; 27780732 Phenotypes for gene: BDNF were set to Central hypoventilation syndrome, congenital 209880 |
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