Can be associated with congenital contractures
Created: 9 Jan 2017, 11:23 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Rhizomelic chondrodysplasia punctata, type 1 215100
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).
PEX7 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
PEX7 was created by agardham