Arthrogryposis
Gene: EMDComment on list classification: No association with arthrogryposisCreated: 4 Jan 2017, 1:12 p.m.
Comment on list classification: Demoted from green to amber due to reviewer's comment.Created: 19 Dec 2016, 12:40 p.m.
not convincing that this produces congenital phenotypes although undoubtedly causes later onset ones.Created: 19 Dec 2016, 11:47 a.m.
Phenotypes
Emery-Dreifuss muscular dystrophy 1, X-linked, 310300
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).
This gene has been classified as Red List (Low Evidence).
EMD was added to Arthrogryposispanel. Source: UKGTN EMD was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen EMD was added to Arthrogryposispanel. Source: Emory Genetics Laboratory EMD was added to Arthrogryposispanel. Source: EMD was added to Arthrogryposispanel. Source: Expert Review Amber Model of inheritance for gene EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
EMD was created by ellenmcdonagh
EMD was added to Arthrogryposispanel. Sources: Expert list