Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Hereditary neuropathy or pain disorder v1.5 YARS Sarah Leigh Tag new-gene-name tag was added to gene: YARS.
Hereditary neuropathy or pain disorder v1.5 YARS Sarah Leigh commented on gene: YARS
Hereditary neuropathy or pain disorder v0.1 YARS Ellen McDonagh gene: YARS was added
gene: YARS 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: YARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: YARS were set to 19561293; 16429158
Phenotypes for gene: YARS were set to Charcot Marie Tooth disease, dominant intermediate C, 608323