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Fetal anomalies

Gene: EMD

Red List (low evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Onset is typically in childhood or later.
Created: 30 Nov 2021, 7:13 a.m. | Last Modified: 30 Nov 2021, 7:13 a.m.
Panel Version: 0.857

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

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

Publications

Belinda Chong (Victorian Clinical Genetics Services)

PMID: 21697856 - 21 male patients with EM muscular dystrophy. Age of onset not well reported, only age at diagnosis. 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-5 years.

PMID: 31802929 - 1 family (9 affected males) with elevated CK levels and mild skeletal muscular dystrophy. Youngest affected was 7 years old

PMID: 31645980 - 1 patient with difficulty moving his limb girdle and cervical vertebrae from 5 years old.
Created: 30 Nov 2021, 3:33 a.m. | Last Modified: 30 Nov 2021, 3:33 a.m.
Panel Version: 0.855

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

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Emery-Dreifuss muscular dystrophy 1, X-linked 310300
OMIM
300384
Clinvar variants
Variants in EMD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Nov 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: emd has been classified as Red List (Low Evidence).

30 Nov 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EMD were set to 26247046

30 Nov 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: emd has been classified as Red List (Low Evidence).

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EMD was added gene: EMD was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: EMD were set to 26247046 Phenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked 310300