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Single allele AND Williams syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 16, 2021
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:
RCV002247734.3

Allele description

Genes:
  • ABHD11-AS1:ABHD11 antisense RNA 1 (tail to tail) [Gene - OMIM - HGNC]
  • BCL7B:BAF chromatin remodeling complex subunit BCL7B [Gene - OMIM - HGNC]
  • BUD23:BUD23 rRNA methyltransferase and ribosome maturation factor [Gene - OMIM - HGNC]
  • LOC108254673:CAGE-defined high expression enhancer upstream of GTF2IRD1 [Gene]
  • CLIP2:CAP-Gly domain containing linker protein 2 [Gene - OMIM - HGNC]
  • LOC126860074:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:73417073-73418272 [Gene]
  • DNAJC30:DnaJ heat shock protein family (Hsp40) member C30 [Gene - OMIM - HGNC]
  • ELN-AS1:ELN antisense RNA 1 [Gene - HGNC]
  • FKBP6:FKBP prolyl isomerase family member 6 (inactive) [Gene - OMIM - HGNC]
  • GTF2I-AS1:GTF2I antisense RNA 1 [Gene - HGNC]
  • GTF2IRD1:GTF2I repeat domain containing 1 [Gene - OMIM - HGNC]
  • LIMK1:LIM domain kinase 1 [Gene - OMIM - HGNC]
  • LOC126860073:MED14-independent group 3 enhancer GRCh37_chr7:73236582-73237781 [Gene]
  • MLXIPL:MLX interacting protein like [Gene - OMIM - HGNC]
  • LOC111413044:NFE2L2 motif-containing MPRA enhancer 193 [Gene]
  • NSUN5:NOP2/Sun RNA methyltransferase 5 [Gene - OMIM - HGNC]
  • LOC126860072:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:73156848-73158047 [Gene]
  • LOC123956159:Sharpr-MPRA regulatory region 10074 [Gene]
  • LOC123956162:Sharpr-MPRA regulatory region 1083 [Gene]
  • LOC123956163:Sharpr-MPRA regulatory region 11240 [Gene]
  • LOC121175345:Sharpr-MPRA regulatory region 11638 [Gene]
  • LOC113748411:Sharpr-MPRA regulatory region 11846 [Gene]
  • LOC113748409:Sharpr-MPRA regulatory region 14121 [Gene]
  • LOC123956164:Sharpr-MPRA regulatory region 2459 [Gene]
  • LOC123956160:Sharpr-MPRA regulatory region 5103 [Gene]
  • LOC113748410:Sharpr-MPRA regulatory region 6518 [Gene]
  • LOC121740686:Sharpr-MPRA regulatory region 8209 [Gene]
  • LOC113748408:Sharpr-MPRA regulatory region 8580 [Gene]
  • LOC123956161:Sharpr-MPRA regulatory region 8848 [Gene]
  • LOC113748407:Sharpr-MPRA regulatory region 8994 [Gene]
  • LOC121175346:Sharpr-MPRA regulatory region 9451 [Gene]
  • VPS37D:VPS37D subunit of ESCRT-I [Gene - OMIM - HGNC]
  • ABHD11:abhydrolase domain containing 11 [Gene - HGNC]
  • BAZ1B:bromodomain adjacent to zinc finger domain 1B [Gene - OMIM - HGNC]
  • CLDN3:claudin 3 [Gene - OMIM - HGNC]
  • CLDN4:claudin 4 [Gene - OMIM - HGNC]
  • ELN:elastin [Gene - OMIM - HGNC]
  • EIF4H:eukaryotic translation initiation factor 4H [Gene - OMIM - HGNC]
  • FZD9:frizzled class receptor 9 [Gene - OMIM - HGNC]
  • GTF2I:general transcription factor IIi [Gene - OMIM - HGNC]
  • LAT2:linker for activation of T cells family member 2 [Gene - OMIM - HGNC]
  • METTL27:methyltransferase like 27 [Gene - OMIM - HGNC]
  • MIR10525:microRNA 10525 [Gene - HGNC]
  • MIR4284:microRNA 4284 [Gene - HGNC]
  • MIR590:microRNA 590 [Gene - OMIM - HGNC]
  • RFC2:replication factor C subunit 2 [Gene - OMIM - HGNC]
  • STX1A:syntaxin 1A [Gene - OMIM - HGNC]
  • TBL2:transducin beta like 2 [Gene - OMIM - HGNC]
  • TMEM270:transmembrane protein 270 [Gene - OMIM - HGNC]
  • TRIM50:tripartite motif containing 50 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7q11.23
Genomic location:
Chr7: 73304277 - 74727414 (on Assembly GRCh38)
Other names:
del(7)(q11.23q11.23)

Condition(s)

Name:
Williams syndrome (WBS)
Synonyms:
Williams-Beuren syndrome; CHROMOSOME 7q11.23 DELETION SYNDROME, 1.5- TO 1.8-MB
Identifiers:
MONDO: MONDO:0008678; MedGen: C0175702; Orphanet: 904; OMIM: 194050

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002515994Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Nov 16, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV002515994.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 17, 2023