Antley-Bixler syndrome can be associated with multiple joint contractures
Created: 11 Jan 2017, 9:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750
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).
POR was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
POR was created by agardham