Perinatal lethal Gaucher is associated with arthrogryposis
Created: 4 Jan 2017, 4:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gaucher disease, perinatal lethal 608013
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 GBA were set to Gaucher disease, perinatal lethal 608013
Publications for GBA were set to 10649495
Mode of inheritance for GBA was changed to BIALLELIC, autosomal or pseudoautosomal
GBA was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
GBA was created by ellenmcdonagh
GBA was added to Arthrogryposispanel. Sources: Expert list