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NC_000010.11:g.(?_89228190)_(89228408_?)del AND Wolman disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 4, 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:
RCV001390913.6

Allele description [Variation Report for NC_000010.11:g.(?_89228190)_(89228408_?)del]

NC_000010.11:g.(?_89228190)_(89228408_?)del

Gene:
LIPA:lipase A, lysosomal acid type [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
10q23.31
Genomic location:
Chr10: 90987947 - 90988165 (on Assembly GRCh37)
Preferred name:
NC_000010.11:g.(?_89228190)_(89228408_?)del
HGVS:
  • NC_000010.11:g.(?_89228190)_(89228408_?)del
  • NC_000010.10:g.(?_90987947)_(90988165_?)del

Condition(s)

Name:
Wolman disease (WOLD)
Synonyms:
Acid cholesteryl ester hydrolase deficiency, Wolman type; Acid lipase disease; Wolman disease, CESD; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0019148; MedGen: C0043208; OMIM: 620151

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001592785Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Oct 4, 2022) 		germlineclinical testing

PubMed (3)
[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

Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease.

Bernstein DL, Hülkova H, Bialer MG, Desnick RJ.

J Hepatol. 2013 Jun;58(6):1230-43. doi: 10.1016/j.jhep.2013.02.014. Epub 2013 Feb 26. Review.

PubMed [citation]
PMID:
23485521

Identification and metabolic profiling of patients with lysosomal acid lipase deficiency.

Pullinger CR, Stock EO, Movsesyan I, Malloy MJ, Frost PH, Tripuraneni R, Quinn AG, Ishida BY, Schaefer EJ, Asztalos BF, Kane JP.

J Clin Lipidol. 2015 Sep-Oct;9(5):716-26.e1. doi: 10.1016/j.jacl.2015.07.008. Epub 2015 Jul 26.

PubMed [citation]
PMID:
26350820
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001592785.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant is a gross deletion of the genomic region encompassing exon(s) 4 of the LIPA gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in LIPA are known to be pathogenic (PMID: 23485521). A similar copy number variant has been observed in individuals with lysosomal acid lipase (LAL) deficiency (PMID: 26350820). It has also been observed to segregate with disease in related individuals. 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: Jun 23, 2024