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| Hereditary Neuropathy - complex v0.193 | HMBS | Zornitza Stark Marked gene: HMBS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.193 | HMBS | Zornitza Stark Gene: hmbs has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.193 | HMBS | Zornitza Stark Phenotypes for gene: HMBS were changed from Acute intermittent porphyria; dHMN/dSMA to Porphyria, acute intermittent MIM#176000; MONDO:0008294 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.192 | HMBS | Zornitza Stark Publications for gene: HMBS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.191 | HMBS | Zornitza Stark reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31205461; Phenotypes: Porphyria, acute intermittent MIM#176000, MONDO:0008294; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.169 | HMBS | Sangavi Sivagnanasundram reviewed gene: HMBS: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301372, 8563760; Phenotypes: Porphyria, acute intermittent MIM#176000, MONDO:0008294; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.0 | HMBS |
Bryony Thompson gene: HMBS was added gene: HMBS was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HMBS were set to Acute intermittent porphyria; dHMN/dSMA |
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