Arthrogryposis
Gene: EMDEnsemblGeneIds (GRCh38): ENSG00000102119
EnsemblGeneIds (GRCh37): ENSG00000102119
OMIM: 300384, Gene2Phenotype
EMD is in 10 panels
3 reviews
Alice Gardham (Genomics England)
Comment on list classification: No association with arthrogryposisCreated: 4 Jan 2017, 1:12 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Demoted from green to amber due to reviewer's comment.Created: 19 Dec 2016, 12:40 p.m.
Emma Clement (Great Ormond Street Hospital)
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
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Red
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Expert list
- Phenotypes
-
- Emery-Dreifuss muscular dystrophy 1, X-linked, 310300
- OMIM
- 300384
- Clinvar variants
- Variants in EMD
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Progressive cardiac conduction disease
- Hereditary neuropathy or pain disorder
- Dilated Cardiomyopathy and conduction defects
- Hereditary neuropathy
- Arthrogryposis
- Dilated and arrhythmogenic cardiomyopathy
- Congenital muscular dystrophy
History Filter Activity
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)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.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)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
Created
Ellen McDonagh (Genomics England Curator)EMD was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)EMD was added to Arthrogryposispanel. Sources: Expert list