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| Hereditary ataxia with onset in adulthood v1.9 | PNKP | Louise Daugherty Added phenotypes Ataxia-oculomotor apraxia 4, 616267; Microcephaly, seizures and developmental delay, 613402 for gene: PNKP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.8 | PNKP | Louise Daugherty reviewed gene: PNKP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.7 | PNKP | Tracy Lester reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia-oculomotor apraxia 4, 616267, Microcephaly, seizures and developmental delay, 613402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.2 | PNKP | Louise Daugherty Source NHS GMS was added to PNKP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.1 | PNKP | Louise Daugherty Source Wessex and West Midlands GLH was added to PNKP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v0.2 | PNKP |
Eleanor Williams gene: PNKP was added gene: PNKP was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNKP were set to Ataxia with oculomotor apraxia 4 (#616267) |
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