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NC_000023.10:g.(?_135288556)_(135293528_?)del AND X-linked myopathy with postural muscle atrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 22, 2022
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:
RCV001384404.8

Allele description [Variation Report for NC_000023.10:g.(?_135288556)_(135293528_?)del]

NC_000023.10:g.(?_135288556)_(135293528_?)del

Gene:
FHL1:four and a half LIM domains 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq26.3
Genomic location:
ChrX: 135288556 - 135293528 (on Assembly GRCh37)
Preferred name:
NC_000023.10:g.(?_135288556)_(135293528_?)del
HGVS:
NC_000023.10:g.(?_135288556)_(135293528_?)del

Condition(s)

Name:
X-linked myopathy with postural muscle atrophy
Identifiers:
MONDO: MONDO:0010401; MedGen: C2678055; OMIM: 300696

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001583879Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Aug 22, 2022) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.

Windpassinger C, Schoser B, Straub V, Hochmeister S, Noor A, Lohberger B, Farra N, Petek E, Schwarzbraun T, Ofner L, Löscher WN, Wagner K, Lochmüller H, Vincent JB, Quasthoff S.

Am J Hum Genet. 2008 Jan;82(1):88-99. doi: 10.1016/j.ajhg.2007.09.004.

PubMed [citation]
PMID:
18179888
PMCID:
PMC2253986

Consequences of mutations within the C terminus of the FHL1 gene.

Schoser B, Goebel HH, Janisch I, Quasthoff S, Rother J, Bergmann M, Müller-Felber W, Windpassinger C.

Neurology. 2009 Aug 18;73(7):543-51. doi: 10.1212/WNL.0b013e3181b2a4b3.

PubMed [citation]
PMID:
19687455
See all PubMed Citations (7)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001583879.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

A gross deletion of the genomic region encompassing the full coding sequence of the FHL1 gene has been identified. Loss-of-function variants in FHL1 are known to be pathogenic (PMID: 18179888, 19687455, 19716112, 22523091, 24114807). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. Isolated whole-gene deletions of FHL1 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 27409453). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024