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| Adult onset dystonia, chorea or related movement disorder v1.86 | SNCA | Arina Puzriakova Phenotypes for gene: SNCA were changed from Autosomal dominant Parkinson's disease with alpha-synuclein rearrangements (PARK1/4); Dementia, Lewy body, 127750; Parkinson disease 4, 605543; Parkinson disease 1, 168601 to Dementia, Lewy body, OMIM:127750; Parkinson disease 4, OMIM:605543; Parkinson disease 1, OMIM:168601 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.88 | SNCAIP | Louise Daugherty edited their review of gene: SNCAIP: 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 v0.54 | SNCA | Louise Daugherty reviewed gene: SNCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.53 | SNCA | James Polke reviewed gene: SNCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.52 | SNCA | Louise Daugherty Source NHS GMS was added to SNCA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.51 | SNCA | Louise Daugherty Source London North GLH was added to SNCA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.50 | SNCAIP | Louise Daugherty reviewed gene: SNCAIP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.49 | SNCAIP | Emily Jones reviewed gene: SNCAIP: Rating: RED; Mode of pathogenicity: ; Publications: 18366718, 21344240; Phenotypes: Parkinson Disease, Dominant/Recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.48 | SNCAIP |
Louise Daugherty Added phenotypes Parkinson Disease, Dominant/Recessive for gene: SNCAIP Publications for gene SNCAIP were changed from to 18366718; 21344240 |
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| Adult onset dystonia, chorea or related movement disorder v0.47 | SNCAIP | Louise Daugherty Source NHS GMS was added to SNCAIP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.46 | SNCAIP | Louise Daugherty Source South West GLH was added to SNCAIP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.2 | SNCAIP |
Ellen McDonagh gene: SNCAIP was added gene: SNCAIP was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: SNCAIP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNCAIP were set to Parkinson Disease, Dominant/Recessive |
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| Adult onset dystonia, chorea or related movement disorder v0.2 | SNCA |
Ellen McDonagh gene: SNCA was added gene: SNCA was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: SNCA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SNCA were set to Autosomal dominant Parkinson's disease with alpha-synuclein rearrangements (PARK1/4); Dementia, Lewy body, 127750; Parkinson disease 4, 605543; Parkinson disease 1, 168601 Mode of pathogenicity for gene: SNCA was set to Other - please provide details in the comments |
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