Activity

Filter

Cancel
Date Panel Item Activity
1 actions
Hereditary neuropathy or pain disorder v0.1 HSPB8 Ellen McDonagh gene: HSPB8 was added
gene: HSPB8 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,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: HSPB8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HSPB8 were set to 28780615; 23389032
Phenotypes for gene: HSPB8 were set to Neuropathy, distal hereditary motor, type IIA, 158590; Charcot Marie Tooth disease, axonal, type 2L, 608673