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Single allele AND Loeys-Dietz syndrome 4

Germline classification:
Pathogenic (1 submission)
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:
RCV000210452.2

Allele description [Variation Report for Single allele]

Genes:
  • BPNT1:3'(2'), 5'-bisphosphate nucleotidase 1 [Gene - OMIM - HGNC]
  • GPATCH2:G-patch domain containing 2 [Gene - OMIM - HGNC]
  • HLX:H2.0 like homeobox [Gene - OMIM - HGNC]
  • RAB3GAP2:RAB3 GTPase activating non-catalytic protein subunit 2 [Gene - OMIM - HGNC]
  • C1orf115:chromosome 1 open reading frame 115 [Gene - HGNC]
  • DUSP10:dual specificity phosphatase 10 [Gene - OMIM - HGNC]
  • ESRRG:estrogen related receptor gamma [Gene - OMIM - HGNC]
  • EPRS1:glutamyl-prolyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • IARS2:isoleucyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • LYPLAL1:lysophospholipase like 1 [Gene - OMIM - HGNC]
  • MIR194-1:microRNA 194-1 [Gene - OMIM - HGNC]
  • MIR215:microRNA 215 [Gene - OMIM - HGNC]
  • MARK1:microtubule affinity regulating kinase 1 [Gene - OMIM - HGNC]
  • MTARC1:mitochondrial amidoxime reducing component 1 [Gene - OMIM - HGNC]
  • MTARC2:mitochondrial amidoxime reducing component 2 [Gene - OMIM - HGNC]
  • KCTD3:potassium channel tetramerization domain containing 3 [Gene - OMIM - HGNC]
  • RRP15:ribosomal RNA processing 15 homolog [Gene - OMIM - HGNC]
  • SLC30A10:solute carrier family 30 member 10 [Gene - OMIM - HGNC]
  • SPATA17:spermatogenesis associated 17 [Gene - OMIM - HGNC]
  • TGFB2:transforming growth factor beta 2 [Gene - OMIM - HGNC]
  • USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q41
Genomic location:
Chr1: 215588712 - 222145072 (on Assembly GRCh37)
HGVS:
NC_000001.10:g.(215588712_?)_(?_222145072)del

Condition(s)

Name:
Loeys-Dietz syndrome 4 (LDS4)
Synonyms:
ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS
Identifiers:
MONDO: MONDO:0013897; MedGen: C3553762; OMIM: 614816

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000266536Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine
criteria provided, single submitter

(Submitter's publication)		Pathogenicde novoresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes11not providednot providednot providedresearch

Citations

PubMed

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.

Lindsay ME, Schepers D, Bolar NA, Doyle JJ, Gallo E, Fert-Bober J, Kempers MJ, Fishman EK, Chen Y, Myers L, Bjeda D, Oswald G, Elias AF, Levy HP, Anderlid BM, Yang MH, Bongers EM, Timmermans J, Braverman AC, Canham N, Mortier GR, Brunner HG, et al.

Nat Genet. 2012 Jul 8;44(8):922-7. doi: 10.1038/ng.2349.

PubMed [citation]
PMID:
22772368
PMCID:
PMC3616632

Details of each submission

From Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine, SCV000266536.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not provided1not provided

Last Updated: Nov 29, 2022