No association with arthrogryposis
Created: 4 Jan 2017, 1:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Chanarin-Dorfman syndrome 275630
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.
Phenotypes for ABHD5 were set to Chanarin-Dorfman syndrome 275630
This gene has been classified as Red List (Low Evidence).
ABHD5 was created by ellenmcdonagh
ABHD5 was added to Arthrogryposispanel. Sources: Expert list