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Single allele AND 16q24.3 microdeletion syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 2016
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:
RCV000258442.1

Allele description [Variation Report for Single allele]

Genes:
  • CBFA2T3:CBFA2/RUNX1 partner transcriptional co-repressor 3 [Gene - OMIM - HGNC]
  • PABPN1L:PABPN1 like, cytoplasmic [Gene - HGNC]
  • ACSF3:acyl-CoA synthetase family member 3 [Gene - OMIM - HGNC]
  • APRT:adenine phosphoribosyltransferase [Gene - OMIM - HGNC]
  • ANKRD11:ankyrin repeat domain containing 11 [Gene - OMIM - HGNC]
  • CDH15:cadherin 15 [Gene - OMIM - HGNC]
  • CDT1:chromatin licensing and DNA replication factor 1 [Gene - OMIM - HGNC]
  • CYBA:cytochrome b-245 alpha chain [Gene - OMIM - HGNC]
  • CTU2:cytosolic thiouridylase subunit 2 [Gene - OMIM - HGNC]
  • GALNS:galactosamine (N-acetyl)-6-sulfatase [Gene - OMIM - HGNC]
  • IL17C:interleukin 17C [Gene - OMIM - HGNC]
  • MVD:mevalonate diphosphate decarboxylase [Gene - OMIM - HGNC]
  • PIEZO1:piezo type mechanosensitive ion channel component 1 [Gene - OMIM - HGNC]
  • RNF166:ring finger protein 166 [Gene - OMIM - HGNC]
  • SNAI3:snail family transcriptional repressor 3 [Gene - OMIM - HGNC]
  • SLC22A31:solute carrier family 22 member 31 [Gene - HGNC]
  • TRAPPC2L:trafficking protein particle complex subunit 2L [Gene - OMIM - HGNC]
  • LOC101927817:uncharacterized LOC101927817 [Gene]
  • ZC3H18:zinc finger CCCH-type containing 18 [Gene - HGNC]
  • ZNF778:zinc finger protein 778 [Gene - HGNC]
  • ZFPM1:zinc finger protein, FOG family member 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16q24.2-24.3
Genomic location:
Chr16: 88556191 - 89557911 (on Assembly GRCh37)
HGVS:
NC_000016.9:g.(?_88556191)_(89557911_?)del
Observations:
1

Condition(s)

Name:
16q24.3 microdeletion syndrome
Identifiers:
MONDO: MONDO:0016838; MedGen: C4304594; Orphanet: 261250

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000328245Zuffardi lab, University of Pavia - Novara 16q24 deletions
no assertion criteria provided
Pathogenic
(Aug 1, 2016) 		de novoclinical testing

Description

arr[hg19] 16q24.2q24.3(88,556,191-89,557,911)x1

SCV000328245

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Zuffardi lab, University of Pavia - Novara 16q24 deletions, SCV000328245.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 26, 2023