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| Hereditary Neuropathy - complex v0.237 | NGLY1 | Zornitza Stark Marked gene: NGLY1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.237 | NGLY1 | Zornitza Stark Gene: ngly1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.237 | NGLY1 | Zornitza Stark Phenotypes for gene: NGLY1 were changed from Developmental delay, choreoathetosis, alacrimia, seizures, microcephaly, transaminitis, neuropathy to Congenital disorder of deglycosylation 1 (CDDG1) (MIM#615273); Developmental delay, choreoathetosis, alacrimia, seizures, microcephaly, transaminitis, neuropathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.236 | NGLY1 | Zornitza Stark Publications for gene: NGLY1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.215 | NGLY1 | Sangavi Sivagnanasundram reviewed gene: NGLY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22581936, 27388694, 29419975; Phenotypes: Congenital disorder of deglycosylation 1 (CDDG1) (MIM#615273); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.0 | NGLY1 |
Bryony Thompson gene: NGLY1 was added gene: NGLY1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NGLY1 were set to Developmental delay, choreoathetosis, alacrimia, seizures, microcephaly, transaminitis, neuropathy |
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