Comment on mode of pathogenicity: Dominant negative mutations
Created: 9 Jan 2017, 11:18 a.m.
Dominant negative mutations.
Associated with congenital contractures
Created: 9 Jan 2017, 11:17 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genitopatellar syndrome 606170
Mode of pathogenicity
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).
Mode of pathogenicity for KAT6B was changed to Other - please provide details in the comments
KAT6B was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
KAT6B was created by agardham