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NC_000002.12:g.(144114719_144303837)_(144566562_144681958)del AND Mowat-Wilson syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 2003
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:
RCV000005031.2

Allele description [Variation Report for NC_000002.12:g.(144114719_144303837)_(144566562_144681958)del]

NC_000002.12:g.(144114719_144303837)_(144566562_144681958)del

Genes:
  • LOC129934871:ATAC-STARR-seq lymphoblastoid active region 16601 [Gene]
  • LOC129934872:ATAC-STARR-seq lymphoblastoid active region 16602 [Gene]
  • LOC129934874:ATAC-STARR-seq lymphoblastoid active region 16603 [Gene]
  • LOC129934870:ATAC-STARR-seq lymphoblastoid silent region 11991 [Gene]
  • LOC129934873:ATAC-STARR-seq lymphoblastoid silent region 11992 [Gene]
  • LOC129388929:MPRA-validated peak3893 silencer [Gene]
  • LOC112806051:Sharpr-MPRA regulatory region 3137 [Gene]
  • LOC122819163:Sharpr-MPRA regulatory region 4867 [Gene]
  • LOC110121209:VISTA enhancer hs1802 [Gene]
  • LOC110120671:VISTA enhancer hs407 [Gene]
  • ZEB2-AS1:ZEB2 antisense RNA 1 [Gene - HGNC]
  • GTDC1:glycosyltransferase like domain containing 1 [Gene - OMIM - HGNC]
  • LINC01412:long intergenic non-protein coding RNA 1412 [Gene - HGNC]
  • LINC02993:long intergenic non-protein coding RNA 2993 [Gene - HGNC]
  • LOC111721705:skeletal muscle cis-regulatory module overlapping ZEB2 [Gene]
  • TEX41:testis expressed 41 [Gene - HGNC]
  • ZEB2:zinc finger E-box binding homeobox 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q22
Genomic location:
Chr2: 144114719 - 144681958 (on Assembly GRCh38)
Preferred name:
NC_000002.12:g.(144114719_144303837)_(144566562_144681958)del
Other names:
chr2:g.(AC009957.11_AC010130.12)_(AC009951.10_AC010090.7)del
HGVS:
Note:
300-kb deletion resulting in loss of ZEB2.
Nucleotide change:
300-KB DEL
Links:
dbVar: nssv7487222; dbVar: nsv1197504; OMIM: 605802.0012

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
SCV000025207OMIM
no assertion criteria provided
Pathogenic
(Aug 1, 2003) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome.

Zweier C, Temple IK, Beemer F, Zackai E, Lerman-Sagie T, Weschke B, Anderson CE, Rauch A.

J Med Genet. 2003 Aug;40(8):601-5. No abstract available.

PubMed [citation]
PMID:
12920073
PMCID:
PMC1735564

Details of each submission

From OMIM, SCV000025207.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient with typical features of Mowat-Wilson syndrome (235730), Zweier et al. (2003) described a deletion of approximately 300 kb on chromosome 2q22, encompassing the ZFHX1B gene, as defined by FISH and marker analysis. The patient was pictured at age 10 years with a facial gestalt typical of Mowat-Wilson syndrome. Birth weight and length were at the 90th centile. He had ventricular septal defect and pulmonary stenosis. He was described as being affectionate and happy.

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

Last Updated: Oct 14, 2023