Activity

Filter

Cancel
Date Panel Item Activity
1 actions
Hereditary neuropathy or pain disorder v0.1 CCT5 Ellen McDonagh gene: CCT5 was added
gene: CCT5 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,UKGTN,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: CCT5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCT5 were set to 16399879
Phenotypes for gene: CCT5 were set to Sensory Neuropathy with Spastic Paraplegia; Neuropathy, hereditary sensory, with spastic paraplegia, 256840