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| Adult onset dystonia, chorea or related movement disorder v1.161 | RNASEH2B | Arina Puzriakova Phenotypes for gene: RNASEH2B were changed from Aicardi-Goutieres syndrome 2, 610181; Dystonia to Aicardi-Goutieres syndrome 2, OMIM:610181; Dystonia (onset in infancy) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v1.160 | RNASEH2B | Arina Puzriakova Mode of inheritance for gene: RNASEH2B was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.88 | RNASEH2B | Louise Daugherty edited their review of gene: RNASEH2B: 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 | RNASEH2B | Louise Daugherty reviewed gene: RNASEH2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.49 | RNASEH2B | Emily Jones reviewed gene: RNASEH2B: Rating: RED; Mode of pathogenicity: ; Publications: 16845400, 25604658, 17846997; Phenotypes: Aicardi-Goutieres syndrome 2, 610181; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.48 | RNASEH2B |
Louise Daugherty Added phenotypes Aicardi-Goutieres syndrome 2, 610181 for gene: RNASEH2B Publications for gene RNASEH2B were changed from to 17846997; 25604658; 16845400 |
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| Adult onset dystonia, chorea or related movement disorder v0.47 | RNASEH2B | Louise Daugherty Source NHS GMS was added to RNASEH2B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.46 | RNASEH2B | Louise Daugherty Source South West GLH was added to RNASEH2B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.2 | RNASEH2B |
Ellen McDonagh gene: RNASEH2B was added gene: RNASEH2B was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: RNASEH2B was set to Phenotypes for gene: RNASEH2B were set to Dystonia |
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