| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hereditary neuropathy or pain disorder v0.1 | PLEKHG5 |
Ellen McDonagh gene: PLEKHG5 was added gene: PLEKHG5 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: PLEKHG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLEKHG5 were set to 23844677; 17564964 Phenotypes for gene: PLEKHG5 were set to Spinal muscular atrophy, distal, autosomal recessive, 4, 611067; Charcot Marie Tooth disease, recessive intermediate C, 615376 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||