46;XY;t(2;4)(p23;q27)dn AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 20, 2016
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:: RCV000258523.1

Allele description [Variation Report for 46;XY;t(2;4)(p23;q27)dn]

46;XY;t(2;4)(p23;q27)dn

Variant type:: Translocation
Cytogenetic location:: 2p23
Preferred name:: 46;XY;t(2;4)(p23;q27)dn

Condition(s)

Name:: Rieger anomaly (RIEG)
Synonyms:: Goniodysgenesis hypodontia; Iridogoniodysgenesis with somatic anomalies
Identifiers:: MONDO: MONDO:0019628; MedGen: C0265341; Human Phenotype Ontology: HP:0000558

Name:: Global developmental delay (DD)
Identifiers:: MedGen: C0557874; Human Phenotype Ontology: HP:0001263

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000320969	Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital	criteria provided, single submitter (Talkowski Lab Assertion Criteria for BCA 2016)	Likely pathogenic (Aug 20, 2016)	de novo	research	PubMed (6) [See all records that cite these PMIDs] 8944018, 7581385, 10051017, 11487566, 15591271, 27841880 Talkowski_Lab_Assertion_Criteria_for_BCA_2016.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000320969

Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital

criteria provided, single submitter

(Talkowski Lab Assertion Criteria for BCA 2016)

Likely pathogenic
(Aug 20, 2016)

de novo

research

PubMed (6)
[See all records that cite these PMIDs]

Talkowski_Lab_Assertion_Criteria_for_BCA_2016.pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome.

Semina EV, Reiter R, Leysens NJ, Alward WL, Small KW, Datson NA, Siegel-Bartelt J, Bierke-Nelson D, Bitoun P, Zabel BU, Carey JC, Murray JC.

Nat Genet. 1996 Dec;14(4):392-9.

PubMed [citation]

PMID:: 8944018

Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25).

Héon E, Sheth BP, Kalenak JW, Sunden SL, Streb LM, Taylor CM, Alward WL, Sheffield VC, Stone EM.

Hum Mol Genet. 1995 Aug;4(8):1435-9.

PubMed [citation]

PMID:: 7581385

See all PubMed Citations (6)

Details of each submission

From Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital, SCV000320969.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (6)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 13, 2023

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