NM_014795.4(ZEB2):c.2717del (p.Pro906fs) AND Mowat-Wilson syndrome

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Oct 20, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001647334.7

Allele description [Variation Report for NM_014795.4(ZEB2):c.2717del (p.Pro906fs)]

NM_014795.4(ZEB2):c.2717del (p.Pro906fs)

Gene:

ZEB2:zinc finger E-box binding homeobox 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q22.3

Genomic location:

Preferred name:

NM_014795.4(ZEB2):c.2717del (p.Pro906fs)

HGVS:

NC_000002.12:g.144398474del
NG_016431.1:g.126922del
NM_001171653.2:c.2645del
NM_014795.4:c.2717delMANE SELECT
NP_001165124.1:p.Pro882fs
NP_055610.1:p.(Pro906LeufsTer24)
NP_055610.1:p.Pro906fs
NC_000002.11:g.145156037del
NC_000002.11:g.145156041del
NM_014795.3:c.2717del

Protein change:

P882fs

Links:

dbSNP: rs2149876411

NCBI 1000 Genomes Browser:

rs2149876411

Molecular consequence:

NM_001171653.2:c.2645del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_014795.4:c.2717del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

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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Pentanols
Pentanols
Isomeric forms and derivatives of pentanol (C5H11OH).<br/>Year introduced: 1998(1972)

MeSH
essv16360653 (2)
dbVar

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001737524	The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 6, 2021)	de novo	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 34298581
SCV002243429	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Feb 5, 2021)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 27831545, 16053902, 28492532
SCV004231883	Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 20, 2023)	de novo	clinical testing	PubMed (2) [See all records that cite these PMIDs] 29300384, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001737524

The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 6, 2021)

de novo

research

PubMed (2)
[See all records that cite these PMIDs]

SCV002243429

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Feb 5, 2021)

germline

clinical testing

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

SCV004231883

Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 20, 2023)

de novo

clinical testing

PubMed (2)
[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	de novo	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
Han Chinese	de novo	yes	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit.

Liu J, Zheng Y, Huang J, Zhu D, Zang P, Luo Z, Yang Y, Peng Y, Xiao Z, Zhu Y, Lu X.

Hum Mutat. 2021 Nov;42(11):1443-1460. doi: 10.1002/humu.24266. Epub 2021 Aug 15.

PubMed [citation]

PMID:: 34298581
PMCID:: PMC9292147

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.

Garavelli L, Ivanovski I, Caraffi SG, Santodirocco D, Pollazzon M, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Baldo C, Bayat A, Belligni E, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, Devriendt K, Dinulos MB, Djuric O, Epifanio R, Faravelli F, et al.

Genet Med. 2017 Jun;19(6):691-700. doi: 10.1038/gim.2016.176. Epub 2016 Nov 10.

PubMed [citation]

PMID:: 27831545
PMCID:: PMC5438871

See all PubMed Citations (6)

Details of each submission

From The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital, SCV001737524.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Han Chinese	1	not provided	not provided	research	PubMed (2)

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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002243429.3

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

Description

For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with Mowat-Wilson sydrome (PMID: 27831545). This variant is also known as c.2713delC. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro906Leufs*24) in the ZEB2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ZEB2 are known to be pathogenic (PMID: 16053902).

#	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

From Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, SCV004231883.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

Description

Heterozygous variant associated with Mowat-Wilson syndrome in at least 1 individual. ACMG/AMP criteria PVS1, PS2, PM2, PP4

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

Last Updated: Sep 29, 2024

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