Congenital muscular dystrophy

Gene: EMD

Amber List (moderate evidence)

EMD (emerin)
EnsemblGeneIds (GRCh38): ENSG00000102119
EnsemblGeneIds (GRCh37): ENSG00000102119
OMIM: 300384, Gene2Phenotype
EMD is in 11 panels

6 reviews

Eleanor Williams (Genomics England Curator)

Added the expert review tag because OMIM has the mode of inheritance as XLR but the reviewer Anna Sarkozy has suggested X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease
Created: 20 Dec 2023, 11 p.m. | Last Modified: 20 Dec 2023, 11 p.m.
Panel Version: 4.19

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: As reviewed by Anna Sarkozy, patients with Emery-Dreifuss muscular dystrophy 1(EDMD1) present symptoms (skeletal muscle and/ or cardiac manifestations) in childhood. There is sufficient evidence (>3 cases) for this gene to be promoted to green in the next major review.
Created: 3 Apr 2023, 12:55 p.m. | Last Modified: 3 Apr 2023, 1:57 p.m.
Panel Version: 4.7
EDMD1 is a rare X-linked recessive disease characterised by early childhood joint contractures, progressive weakness in muscles and cardiac involvement and can result in sudden death.

PMID:21697856 reported18 patients and three carriers identified with variants in EMD gene. The patients presented with EDMD and the age at diagnosis was reported for all, but age of onset was only reported for only a few. The youngest patient was 5 days old but asymptomatic, eldest was 55 years. Of those with age of onset reported, 3 had progressive muscle weakness onset from neonatal to 5 years of age.

PMID:31645980 reported a male patient that began having difficulty moving his limb gridle and cervical vertebrae at the age of 5 years. The condition worsened when he was 13 years, and normal exercise was limited, with serious elbow contracture and mild scapular winging contracture.

PMID:31802929 reported one family with 10 affected males with serious cardiac conduction abnormalities at an early age and a high incidence of sudden cardiac death (SCD) along with mild skeletal muscular atrophy, joint contracture and elevated CK levels. and mild skeletal muscular dystrophy.

PMID:34026875 reported three unrelated patients with EDMD, who had cardiac manifestation in childhood without any skeletal muscle phenotypes.

This gene has been associated with phenotypes in OMIM (MIM #310300), which also describes the disorder as primarily of childhood onset. It has not yet been reported in Gene2Phenotype.
Created: 3 Apr 2023, 12:51 p.m. | Last Modified: 4 Apr 2023, 2:10 p.m.
Panel Version: 4.7

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Emery-Dreifuss muscular dystrophy 1, X-linked, OMIM:310300

Publications

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

patients with pathogenic variants in EMD present symptoms from early childhood and symptoms can overlap those seen in patients with congenital onset muscular dystrophy with weakness and atrophy of muscle, contractures of joints in upper and lower limbs from early childhood, cardiomyopathy. in view of this we would recommend adding this gene into the R79 panel for CMD.
Created: 24 Mar 2023, 1:38 p.m. | Last Modified: 24 Mar 2023, 1:38 p.m.
Panel Version: 4.1

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

Phenotypes
Emery Dreifuss muscular dystrophy, X linked

Mode of pathogenicity
Other

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 Amber
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Emery-Dreifuss muscular dystrophy 1, X-linked, OMIM:310300
Tags
Q2_23_promote_green Q2_23_NHS_review Q2_23_expert_review
OMIM
300384
Clinvar variants
Variants in EMD
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Dec 2023, Gel status: 2

Removed Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_21_expert_review was removed from gene: EMD. Tag Q2_23_expert_review tag was added to gene: EMD.

20 Dec 2023, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_expert_review tag was added to gene: EMD.

3 Apr 2023, Gel status: 2

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_23_NHS_review tag was added to gene: EMD.

3 Apr 2023, Gel status: 2

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_23_promote_green tag was added to gene: EMD.

3 Apr 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: emd has been classified as Amber List (Moderate Evidence).

3 Apr 2023, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: EMD were set to 21697856; 31645980; 31802929; 34026875

3 Apr 2023, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: EMD were set to

3 Feb 2023, Gel status: 1

Removed Source

Arina Puzriakova (Genomics England Curator)

Source was removed from EMD.

3 Feb 2023, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: EMD were changed from Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 to Emery-Dreifuss muscular dystrophy 1, X-linked, OMIM:310300

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