NC_000023.10:g.(?_153607825)_(153609577_?)del AND X-linked Emery-Dreifuss muscular dystrophy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 9, 2018
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000708131.2

Allele description [Variation Report for NC_000023.10:g.(?_153607825)_(153609577_?)del]

NC_000023.10:g.(?_153607825)_(153609577_?)del

Gene:: EMD:emerin [Gene - OMIM - HGNC]
Variant type:: Deletion
Cytogenetic location:: Xq28
Genomic location:: ChrX: 153607825 - 153609577 (on Assembly GRCh37)
Preferred name:: NC_000023.10:g.(?_153607825)_(153609577_?)del
HGVS:: NC_000023.10:g.(?_153607825)_(153609577_?)del
This HGVS expression did not pass validation

Condition(s)

Name:: X-linked Emery-Dreifuss muscular dystrophy
Synonyms:: Muscular dystrophy, tardive Emery-Dreifuss type, with contractures
Identifiers:: MONDO: MONDO:0010680; MedGen: C0751337; Orphanet: 261; Orphanet: 98863

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000837241	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Feb 9, 2018)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 10480214, 9384614, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000837241

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Feb 9, 2018)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion.

Fujimoto S, Ishikawa T, Saito M, Wada Y, Wada I, Arahata K, Nonaka I.

Neuropediatrics. 1999 Jun;30(3):161-3.

PubMed [citation]

PMID:: 10480214

Emerin deletions occurring on both Xq28 inversion backgrounds.

Small K, Warren ST.

Hum Mol Genet. 1998 Jan;7(1):135-9.

PubMed [citation]

PMID:: 9384614

See all PubMed Citations (3)

Details of each submission

From Invitae, SCV000837241.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

A gross deletion of the genomic region encompassing the full coding sequence of the EMD gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Similar deletions of the EMD gene have been reported in individuals affected with Emeryâ€šÃ„Ã¬Dreifuss muscular dystrophy (PMID: 9384614, 10480214). Loss-of-function variants in EMD are known to be pathogenic (PMID: 24365856). For these reasons, this variant has been classified as Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 7, 2023

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