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Single allele AND Trichorhinophalangeal dysplasia type I

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 17, 2018
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:
RCV000735900.2

Allele description [Variation Report for Single allele]

Genes:
  • ATAD2:ATPase family AAA domain containing 2 [Gene - OMIM - HGNC]
  • DEPTOR:DEP domain containing MTOR interacting protein [Gene - OMIM - HGNC]
  • DSCC1:DNA replication and sister chromatid cohesion 1 [Gene - OMIM - HGNC]
  • FBXO32:F-box protein 32 [Gene - OMIM - HGNC]
  • HAS2-AS1:HAS2 antisense RNA 1 [Gene - OMIM - HGNC]
  • LRATD2:LRAT domain containing 2 [Gene - OMIM - HGNC]
  • MTBP:MDM2 binding protein [Gene - OMIM - HGNC]
  • MTSS1:MTSS I-BAR domain containing 1 [Gene - OMIM - HGNC]
  • MYC:MYC proto-oncogene, bHLH transcription factor [Gene - OMIM - HGNC]
  • NTAQ1:N-terminal glutamine amidase 1 [Gene - HGNC]
  • NDUFB9:NADH:ubiquinone oxidoreductase subunit B9 [Gene - OMIM - HGNC]
  • NSMCE2:NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase [Gene - OMIM - HGNC]
  • POU5F1B:POU class 5 homeobox 1B [Gene - OMIM - HGNC]
  • PVT1:Pvt1 oncogene [Gene - OMIM - HGNC]
  • RAD21:RAD21 cohesin complex component [Gene - OMIM - HGNC]
  • TAF2:TATA-box binding protein associated factor 2 [Gene - OMIM - HGNC]
  • TBC1D31:TBC1 domain family member 31 [Gene - HGNC]
  • TNFRSF11B:TNF receptor superfamily member 11b [Gene - OMIM - HGNC]
  • TATDN1:TatD DNase domain containing 1 [Gene - OMIM - HGNC]
  • UTP23:UTP23 small subunit processome component [Gene - HGNC]
  • WASHC5:WASH complex subunit 5 [Gene - OMIM - HGNC]
  • ZHX1-C8orf76:ZHX1-C8orf76 readthrough [Gene - HGNC]
  • AARD:alanine and arginine rich domain containing protein [Gene - HGNC]
  • ANXA13:annexin A13 [Gene - OMIM - HGNC]
  • CCN3:cellular communication network factor 3 [Gene - OMIM - HGNC]
  • C8orf76:chromosome 8 open reading frame 76 [Gene - HGNC]
  • COL14A1:collagen type XIV alpha 1 chain [Gene - OMIM - HGNC]
  • COLEC10:collectin subfamily member 10 [Gene - OMIM - HGNC]
  • DERL1:derlin 1 [Gene - OMIM - HGNC]
  • ENPP2:ectonucleotide pyrophosphatase/phosphodiesterase 2 [Gene - OMIM - HGNC]
  • EIF3H:eukaryotic translation initiation factor 3 subunit H [Gene - OMIM - HGNC]
  • EXT1:exostosin glycosyltransferase 1 [Gene - OMIM - HGNC]
  • FAM83A:family with sequence similarity 83 member A [Gene - HGNC]
  • FAM91A1:family with sequence similarity 91 member A1 [Gene - HGNC]
  • FER1L6:fer-1 like family member 6 [Gene - HGNC]
  • HAS2:hyaluronan synthase 2 [Gene - OMIM - HGNC]
  • KLHL38:kelch like family member 38 [Gene - HGNC]
  • LINC00536:long intergenic non-protein coding RNA 536 [Gene - HGNC]
  • MAL2:mal, T cell differentiation protein 2 [Gene - OMIM - HGNC]
  • MED30:mediator complex subunit 30 [Gene - OMIM - HGNC]
  • MRPL13:mitochondrial ribosomal protein L13 [Gene - OMIM - HGNC]
  • PCAT1:prostate cancer associated transcript 1 [Gene - OMIM - HGNC]
  • RNF139:ring finger protein 139 [Gene - OMIM - HGNC]
  • SLC30A8:solute carrier family 30 member 8 [Gene - OMIM - HGNC]
  • SQLE:squalene epoxidase [Gene - OMIM - HGNC]
  • SAMD12:sterile alpha motif domain containing 12 [Gene - OMIM - HGNC]
  • SNTB1:syntrophin beta 1 [Gene - OMIM - HGNC]
  • TRMT12:tRNA methyltransferase 12 homolog [Gene - OMIM - HGNC]
  • TRPS1:transcriptional repressor GATA binding 1 [Gene - OMIM - HGNC]
  • TMEM65:transmembrane protein 65 [Gene - OMIM - HGNC]
  • TRIB1:tribbles pseudokinase 1 [Gene - OMIM - HGNC]
  • ZNF572:zinc finger protein 572 [Gene - HGNC]
  • ZHX1:zinc fingers and homeoboxes 1 [Gene - OMIM - HGNC]
  • ZHX2:zinc fingers and homeoboxes 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
8q23.3-24.21
Genomic location:
Chr8: 114508086 - 129040004 (on Assembly GRCh37)
HGVS:
NC_000008.10:g.114508086_129040004del

Condition(s)

Name:
Trichorhinophalangeal dysplasia type I (TRPS1)
Synonyms:
TRPS I; Trichorhinophalangeal syndrome type 1; Giedion syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008596; MedGen: C0432233; Orphanet: 77258; OMIM: 190350

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000864012Rare Disease Group, Clinical Genetics, Karolinska Institutet
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Dec 17, 2018) 		de novoresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

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 Rare Disease Group, Clinical Genetics, Karolinska Institutet, SCV000864012.1

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

Last Updated: Oct 14, 2023