Comment when marking as ready: No known association with arthrogryposis
Created: 5 Jan 2017, 10:25 a.m.
Comment on list classification: Demoted from amber to red due to expert review. It is a possible DD gene for Fascioscapulohumeral muscular dystrophy 2, digenic.
Created: 19 Dec 2016, 1:17 p.m.
Fascioscapulohumeral muscular dystrophy 2, digenic, 158901
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 Red List (Low Evidence).
SMCHD1 was added to Arthrogryposispanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,,Expert Review Red
SMCHD1 was created by ellenmcdonagh