U.S. flag

An official website of the United States government

Single allele AND Mowat-Wilson syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 22, 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:
RCV001250753.1

Allele description [Variation Report for Single allele]

Genes:
  • LRP1B:LDL receptor related protein 1B [Gene - OMIM - HGNC]
  • ARHGAP15:Rho GTPase activating protein 15 [Gene - OMIM - HGNC]
  • GTDC1:glycosyltransferase like domain containing 1 [Gene - OMIM - HGNC]
  • HNMT:histamine N-methyltransferase [Gene - OMIM - HGNC]
  • KYNU:kynureninase [Gene - OMIM - HGNC]
  • NXPH2:neurexophilin 2 [Gene - OMIM - HGNC]
  • SPOPL:speckle type BTB/POZ protein like [Gene - HGNC]
  • THSD7B:thrombospondin type 1 domain containing 7B [Gene - HGNC]
  • ZEB2:zinc finger E-box binding homeobox 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q22.1-22.3
Genomic location:
Chr2: 137639637 - 146827604 (on Assembly GRCh37)
HGVS:
NC_000002.11:g.(?_137639637)_(146827604_?)del

Condition(s)

Name:
Mowat-Wilson syndrome (MOWS)
Synonyms:
Mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease; Hirschsprung disease mental retardation syndrome
Identifiers:
MONDO: MONDO:0009341; MedGen: C1856113; Orphanet: 2152; OMIM: 235730

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001426172Blueprint Genetics
criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)		Pathogenic
(Mar 22, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV001426172.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022