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46;X;t(X;5)(q24;q13)dn AND multiple conditions

Germline classification:
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:
RCV000258512.1

Allele description [Variation Report for 46;X;t(X;5)(q24;q13)dn]

46;X;t(X;5)(q24;q13)dn

Variant type:
Translocation
Cytogenetic location:
5q13
Preferred name:
46;X;t(X;5)(q24;q13)dn

Condition(s)

Name:
Failure to thrive
Synonyms:
Pediatric failure to thrive
Identifiers:
MedGen: C2315100; Human Phenotype Ontology: HP:0001508
Name:
Weight loss
Identifiers:
MedGen: C1262477; Human Phenotype Ontology: HP:0001824
Name:
Feeding difficulties
Identifiers:
MedGen: C0232466; Human Phenotype Ontology: HP:0011968
Name:
Growth delay
Synonyms:
Growth Retardation
Identifiers:
MedGen: C0456070; Human Phenotype Ontology: HP:0001510
Name:
Brachycephaly
Identifiers:
MedGen: C0221356; Human Phenotype Ontology: HP:0000248
Name:
Deeply set eye
Synonyms:
Enophthalmos
Identifiers:
MONDO: MONDO:0001210; MedGen: C0423224; Human Phenotype Ontology: HP:0000490
Name:
Pointed chin
Identifiers:
MedGen: C1844505; Human Phenotype Ontology: HP:0000307
Name:
Malar flattening
Synonyms:
Flat midface
Identifiers:
MedGen: C1858085; Human Phenotype Ontology: HP:0000272
Name:
Narrow mouth
Identifiers:
MedGen: C0026034; Human Phenotype Ontology: HP:0000160
Name:
Agitation
Identifiers:
MedGen: C0085631; Human Phenotype Ontology: HP:0000713
Name:
Nephrolithiasis
Identifiers:
MONDO: MONDO:0008171; MedGen: C0392525; Human Phenotype Ontology: HP:0000787
Name:
Reduced eye contact
Synonyms:
Poor eye contact
Identifiers:
MedGen: C1445953; Human Phenotype Ontology: HP:0000817
Name:
Panhypopituitarism
Identifiers:
MONDO: MONDO:0019591; MedGen: C0242343; Human Phenotype Ontology: HP:0000871
Name:
Lower limb spasticity
Identifiers:
MedGen: C1271100; Human Phenotype Ontology: HP:0002061
Name:
Generalized myoclonic seizure
Synonyms:
Generalized myoclonic seizures
Identifiers:
MedGen: C4021759; Human Phenotype Ontology: HP:0002123
Name:
Episodic abdominal pain
Identifiers:
MedGen: C3808022; Human Phenotype Ontology: HP:0002574
Name:
Limb joint contracture
Identifiers:
MedGen: C1969879; Human Phenotype Ontology: HP:0003121
Name:
Upper limb spasticity
Identifiers:
MedGen: C1273957; Human Phenotype Ontology: HP:0006986
Name:
Prominent forehead
Identifiers:
MedGen: C1837260; Human Phenotype Ontology: HP:0011220
Name:
Severe global developmental delay
Synonyms:
Severe psychomotor retardation
Identifiers:
MedGen: C1837397; Human Phenotype Ontology: HP:0011344
Name:
Decreased activity of mitochondrial complex III
Identifiers:
MedGen: C3149083; Human Phenotype Ontology: HP:0011924

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000320777Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital
criteria provided, single submitter

(Talkowski Lab Assertion Criteria for BCA 2016)
Pathogenic
(Aug 20, 2016)
de novoresearch

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

Talkowski_Lab_Assertion_Criteria_for_BCA_2016.pdf

Citation Link

Summary from all submissions

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

Citations

PubMed

Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24.

des Portes V, Soufir N, CarriƩ A, Billuart P, Bienvenu T, Vinet MC, Beldjord C, Ponsot G, Kahn A, BouƩ J, Chelly J.

Am J Med Genet. 1997 Oct 31;72(3):324-8.

PubMed [citation]
PMID:
9332663

A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features.

Rejeb I, Saillour Y, Castelnau L, Julien C, Bienvenu T, Taga P, Chaabouni H, Chelly J, Ben Jemaa L, Bahi-Buisson N.

Eur J Hum Genet. 2008 Nov;16(11):1358-63. doi: 10.1038/ejhg.2008.103. Epub 2008 Jun 4.

PubMed [citation]
PMID:
18523455
See all PubMed Citations (6)

Details of each submission

From Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital, SCV000320777.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (6)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 26, 2024