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| Hereditary Neuropathy - complex v0.222 | PNKP | Zornitza Stark Marked gene: PNKP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.222 | PNKP | Zornitza Stark Gene: pnkp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.222 | PNKP | Zornitza Stark Phenotypes for gene: PNKP were changed from Ataxia-oculomotor apraxia 4, 616267; Microcephaly, global developmental delay, progressive cerebellar ataxia and atrophy, sensory-motor axonal neuropathy; Microcephaly, seizures, and developmental delay, 613402; HMSN to Charcot-Marie-Tooth disease, axonal, type 2B2 (MIM#605589); Ataxia-oculomotor apraxia 4 (MIM#616267) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.221 | PNKP | Zornitza Stark Publications for gene: PNKP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.215 | PNKP | Sangavi Sivagnanasundram reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: None; Publications: 30039206, 27066567, 25728773; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2B2 (MIM#605589), Ataxia-oculomotor apraxia 4 (MIM#616267); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.0 | PNKP |
Bryony Thompson gene: PNKP was added gene: PNKP was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNKP were set to Ataxia-oculomotor apraxia 4, 616267; Microcephaly, global developmental delay, progressive cerebellar ataxia and atrophy, sensory-motor axonal neuropathy; Microcephaly, seizures, and developmental delay, 613402; HMSN |
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