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Hereditary Neuropathy_CMT - isolated v0.204 PRPS1 Zornitza Stark Marked gene: PRPS1 as ready
Hereditary Neuropathy_CMT - isolated v0.204 PRPS1 Zornitza Stark Gene: prps1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.204 PRPS1 Zornitza Stark Mode of inheritance for gene: PRPS1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary Neuropathy_CMT - isolated v0.203 PRPS1 Zornitza Stark Publications for gene: PRPS1 were set to
Hereditary Neuropathy_CMT - isolated v0.202 PRPS1 Zornitza Stark reviewed gene: PRPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17701900, 24285972, 25491489, 25182139; Phenotypes: Charcot-Marie-Tooth disease, X-linked recessive, 5, MIM# 311070; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary Neuropathy_CMT - isolated v0.0 PRPS1 Bryony Thompson gene: PRPS1 was added
gene: PRPS1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PRPS1 were set to Charcot Marie Tooth disease, X linked recessive, 5, 311070; HMSN