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| Hereditary ataxia with onset in adulthood v1.171 | PIK3R5 | Louise Daugherty edited their review of gene: PIK3R5: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels -Hereditary ataxia v1.148 - Brain channelopathy v1.46. This gene was RED and external expert review from London North GLH and Wessex and West Midlands GLH for GMS Neurology specialist test group for R54 agrees this gene should remain RED; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.14 | PIK3R5 | Louise Daugherty commented on gene: PIK3R5: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.13 | PIK3R5 | Louise Daugherty Source London North GMS was added to PIK3R5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.11 | PIK3R5 | James Polke reviewed gene: PIK3R5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.9 | PIK3R5 | Louise Daugherty Added phenotypes Ataxia-oculomotor apraxia 3, 615217 for gene: PIK3R5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.8 | PIK3R5 | Louise Daugherty reviewed gene: PIK3R5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.7 | PIK3R5 | Tracy Lester reviewed gene: PIK3R5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia-oculomotor apraxia 3, 615217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.2 | PIK3R5 | Louise Daugherty Source NHS GMS was added to PIK3R5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.1 | PIK3R5 | Louise Daugherty Source Wessex and West Midlands GLH was added to PIK3R5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v0.2 | PIK3R5 |
Eleanor Williams gene: PIK3R5 was added gene: PIK3R5 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: PIK3R5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIK3R5 were set to Ataxia-oculomotor apraxia 3 |
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