Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Hereditary Neuropathy_CMT - isolated v0.12 | DRP2 | Zornitza Stark Marked gene: DRP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Neuropathy_CMT - isolated v0.12 | DRP2 | Zornitza Stark Gene: drp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Neuropathy_CMT - isolated v0.12 | DRP2 | Zornitza Stark reviewed gene: DRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26227883, 11430802, 31217940, 22764250, 29473052; Phenotypes: X-linked Charcot-Marie-Tooth; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Neuropathy_CMT - isolated v0.0 | DRP2 |
Bryony Thompson gene: DRP2 was added gene: DRP2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: DRP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: DRP2 were set to 22764250; 26227883; 31217940 Phenotypes for gene: DRP2 were set to Charcot Marie Tooth, intermediate X-linked; HMSN |