Congenital muscular dystrophy

Gene: EMD

Red List (low evidence)

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

3 reviews

Arianna Tucci (Genomics England Curator)

Red List (low evidence)

Typically causes later onset muscular dystrophy
Created: 26 Jan 2017, 3:57 p.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: See reviewer comments - demoted to red as variants in this gene have not been reported for congenital muscular dystrophy.
Created: 27 Jan 2017, 1:55 p.m.
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)

I don't know

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
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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 Jan 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27.01.2017 Panel revised after expert review and internal review with further curation.

27 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

27 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

19 Dec 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for EMD was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

19 Dec 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Dec 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

EMD was added to Congenital muscular dystrophypanel. Source:

23 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

EMD was added to Congenital muscular dystrophypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

23 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

EMD was added to Congenital muscular dystrophypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

23 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

EMD was added to Congenital muscular dystrophypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory