Recognised on G2P and listed as biallelic
Created: 21 Dec 2016, 2:33 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ullrich congenital muscular dystrophy 1 254090
Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090
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.
COL6A3 was added to Arthrogryposispanel. Source:
This gene has been classified as Green List (High Evidence).
Phenotypes for COL6A3 were set to Ullrich congenital muscular dystrophy 1 254090
Publications for COL6A3 were set to 11992252
COL6A3 was added to Arthrogryposispanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
COL6A3 was added to Arthrogryposispanel. Sources: Expert list
COL6A3 was created by ellenmcdonagh