Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ullrich congenital muscular dystrophy 1 254090
Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090Myosclerosis, congenital, 255600
16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
COL6A2 was added to Arthrogryposispanel. Source:
This gene has been classified as Green List (High Evidence).
Phenotypes for COL6A2 were set to Ullrich congenital muscular dystrophy 1 254090
Publications for COL6A2 were set to 11381124
COL6A2 was added to Arthrogryposispanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
COL6A2 was created by ellenmcdonagh
COL6A2 was added to Arthrogryposispanel. Sources: Expert list