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| Hereditary Neuropathy - complex v0.269 | PMM2 | Bryony Thompson Marked gene: PMM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.269 | PMM2 | Bryony Thompson Gene: pmm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.269 | PMM2 | Bryony Thompson Publications for gene: PMM2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.266 | PMM2 | Sangavi Sivagnanasundram edited their review of gene: PMM2: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.265 | PMM2 | Sangavi Sivagnanasundram reviewed gene: PMM2: Rating: RED; Mode of pathogenicity: None; Publications: 20301507, 20301289; Phenotypes: Congenital disorder of glycosylation, type Ia (MIM#212065); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.0 | PMM2 |
Bryony Thompson gene: PMM2 was added gene: PMM2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PMM2 were set to Neonatal-onset, leukodystrophy, abnormal serum glycoproteins, mental retardation, hypotonia, ataxia, retinitis pigmentosa, seizures, slowly progressive neuropathy with SNCV, severe infections, hepatic insufficiency and cardiomyopathy |
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