| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hereditary Neuropathy_CMT - isolated v0.81 | CHCHD10 | Zornitza Stark Marked gene: CHCHD10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.81 | CHCHD10 | Zornitza Stark Gene: chchd10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.81 | CHCHD10 | Zornitza Stark Phenotypes for gene: CHCHD10 were changed from Spinal muscular atrophy, Jokela type: 615048; dHMN/dSMA to Spinal muscular atrophy, Jokela type: 615048; CMT2; dHMN/dSMA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.80 | CHCHD10 | Zornitza Stark Publications for gene: CHCHD10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.79 | CHCHD10 | Zornitza Stark Tag founder tag was added to gene: CHCHD10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.79 | CHCHD10 | Zornitza Stark reviewed gene: CHCHD10: Rating: GREEN; Mode of pathogenicity: None; Publications: 22535186, 27066538; Phenotypes: Spinal muscular atrophy, Jokela type, MIM# 615048, CMT2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.0 | CHCHD10 |
Bryony Thompson gene: CHCHD10 was added gene: CHCHD10 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CHCHD10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CHCHD10 were set to Spinal muscular atrophy, Jokela type: 615048; dHMN/dSMA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||