Activity
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| Dystonia, chorea or related movement disorder, adult onset v1.158 | HPRT1 | Arina Puzriakova Phenotypes for gene: HPRT1 were changed from Lesch-Nyhan syndrome, 300322; Dystonia to Lesch-Nyhan syndrome, OMIM:300322; Dystonia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.88 | HPRT1 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.88 | HPRT1 | Louise Daugherty commented on gene: HPRT1: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.88 | HPRT1 | Louise Daugherty edited their review of gene: HPRT1: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.50 | HPRT1 | Louise Daugherty reviewed gene: HPRT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.49 | HPRT1 | Emily Jones reviewed gene: HPRT1: Rating: RED; Mode of pathogenicity: ; Publications: 20176575; Phenotypes: Lesch-Nyhan syndrome, 300322; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.48 | HPRT1 |
Louise Daugherty Added phenotypes Lesch-Nyhan syndrome, 300322 for gene: HPRT1 Publications for gene HPRT1 were changed from to 20176575 |
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| Dystonia, chorea or related movement disorder, adult onset v0.47 | HPRT1 | Louise Daugherty Source NHS GMS was added to HPRT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.46 | HPRT1 | Louise Daugherty Source South West GLH was added to HPRT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.2 | HPRT1 |
Ellen McDonagh gene: HPRT1 was added gene: HPRT1 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: HPRT1 was set to Phenotypes for gene: HPRT1 were set to Dystonia |
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