Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Hereditary neuropathy or pain disorder v2.19 | ISCA-37436-Gain | Arina Puzriakova reviewed Region: ISCA-37436-Gain: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy or pain disorder v2.19 | ISCA-37436-Gain |
Arina Puzriakova Region: ISCA-37436-Gain was added Region: ISCA-37436-Gain was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert Review Green,ClinGen Mode of inheritance for Region: ISCA-37436-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37436-Gain were set to 20301384 |