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| Hereditary Neuropathy - complex v0.229 | PHYH | Zornitza Stark Marked gene: PHYH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.229 | PHYH | Zornitza Stark Gene: phyh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.229 | PHYH | Zornitza Stark Phenotypes for gene: PHYH were changed from Refsum disease; Phytanic acid storage disease to Refsum Disease MIM#266500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.228 | PHYH | Zornitza Stark Publications for gene: PHYH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.227 | PHYH | Zornitza Stark reviewed gene: PHYH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Refsum Disease MIM#266500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.215 | PHYH | Sangavi Sivagnanasundram reviewed gene: PHYH: Rating: AMBER; Mode of pathogenicity: None; Publications: 2433405, 20301527; Phenotypes: Adult Refsum Disease MIM#266500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.0 | PHYH |
Bryony Thompson gene: PHYH was added gene: PHYH was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PHYH were set to Refsum disease; Phytanic acid storage disease |
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