Comment when marking as ready: Cockayne syndrome known to be associated with arthrogryposis
Created: 21 Dec 2016, 4:04 p.m.
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.
This gene has been classified as Green List (High Evidence).
Phenotypes for ERCC6 were set to Cockayne syndrome, type B 133540
ERCC6 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
ERCC6 was added to Arthrogryposispanel. Sources: Expert list
ERCC6 was created by ellenmcdonagh