| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Neuropathy - complex v0.99 | NUDT2 | Zornitza Stark Marked gene: NUDT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.99 | NUDT2 | Zornitza Stark Gene: nudt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.99 | NUDT2 | Zornitza Stark Classified gene: NUDT2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.99 | NUDT2 | Zornitza Stark Gene: nudt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.98 | NUDT2 |
Zornitza Stark gene: NUDT2 was added gene: NUDT2 was added to Hereditary Neuropathy - complex. Sources: Literature Mode of inheritance for gene: NUDT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUDT2 were set to 33058507; 27431290; 30059600; 33058507 Phenotypes for gene: NUDT2 were set to Muscular hypotonia; Global developmental delay; Intellectual disability; Polyneuropathy Review for gene: NUDT2 was set to GREEN Added comment: Eight families reported altogether, though some have same founder variant. Four had polyneuropathy as part of the phenotype. Sources: Literature |
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