Congenital muscular dystrophy
Gene: EMDAdded 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 diseaseCreated: 20 Dec 2023, 11 p.m. | Last Modified: 20 Dec 2023, 11 p.m.
Panel Version: 4.19
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
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
Typically causes later onset muscular dystrophyCreated: 26 Jan 2017, 3:57 p.m.
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.
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
Tag Q2_21_expert_review was removed from gene: EMD. Tag Q2_23_expert_review tag was added to gene: EMD.
Tag Q2_21_expert_review tag was added to gene: EMD.
Tag Q2_23_NHS_review tag was added to gene: EMD.
Tag Q2_23_promote_green tag was added to gene: EMD.
Gene: emd has been classified as Amber List (Moderate Evidence).
Publications for gene: EMD were set to 21697856; 31645980; 31802929; 34026875
Publications for gene: EMD were set to
Source was removed from EMD.
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
27.01.2017 Panel revised after expert review and internal review with further curation.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for EMD was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Amber List (Moderate Evidence).
EMD was added to Congenital muscular dystrophypanel. Source:
EMD was added to Congenital muscular dystrophypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
EMD was added to Congenital muscular dystrophypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
EMD was added to Congenital muscular dystrophypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory