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NM_014795.4(ZEB2):c.916+6T>G AND Mowat-Wilson syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003330049.1

Allele description [Variation Report for NM_014795.4(ZEB2):c.916+6T>G]

NM_014795.4(ZEB2):c.916+6T>G

Gene:
ZEB2:zinc finger E-box binding homeobox 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q22.3
Genomic location:
Preferred name:
NM_014795.4(ZEB2):c.916+6T>G
HGVS:
  • NC_000002.12:g.144401193A>C
  • NG_016431.1:g.124199T>G
  • NM_001171653.2:c.844+6T>G
  • NM_014795.4:c.916+6T>GMANE SELECT
  • NC_000002.11:g.145158760A>C
Molecular consequence:
  • NM_001171653.2:c.844+6T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_014795.4:c.916+6T>G - intron variant - [Sequence Ontology: SO:0001627]
Functional consequence:
effect on RNA splicing [Variation Ontology: 0362]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004031486Department of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center
no assertion criteria provided
Pathogenic
(Sep 1, 2023) 		unknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Asianunknownyes1not providednot providednot providednot providedresearch

Details of each submission

From Department of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center, SCV004031486.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Asian1not providednot providedresearchnot provided

Description

This variant, c.916+6T>G of ZEB2, was identified in a patient of Mowat-Wilson syndrome (MOWS) whose phenotype was relatively mild. The submitter has performed minigene assay to prove the variant caused an incomplete splicing aberration leading to loss-of-function of ZEB2. The decreasing of the ZEB2 transcript was milder than those in patients of typical MOWS.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 30, 2023