Limb girdle muscular dystrophy

Gene: EMD

Green List (high evidence)

EMD (emerin)
EnsemblGeneIds (GRCh38): ENSG00000102119
EnsemblGeneIds (GRCh37): ENSG00000102119
OMIM: 300384, Gene2Phenotype
EMD is in 12 panels

1 review

Ellen Thomas (Genomics England Curator)

Comment on list classification: EDMD is an important differential
Created: 29 May 2016, 7:29 p.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Emery-Dreifuss muscular dystrophy 1, X-linked 310300
OMIM
300384
Clinvar variants
Variants in EMD
Penetrance
Complete
Panels with this gene

History Filter Activity

27 Jul 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.

26 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked 310300

29 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for EMD was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

29 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 May 2016, Gel status: 0

Added New Source

Ellen Thomas (Genomics England Curator)

EMD was added to Limb girdle muscular dystrophypanel. Sources: Expert Review

29 May 2016, Gel status: 0

Created

Ellen Thomas (Genomics England Curator)

EMD was created by EllenThomas