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46;XY;t(4;14;4;1)(q28.2;q13.1;28.2q21;p32.3)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:
RCV000258548.2

Allele description [Variation Report for 46;XY;t(4;14;4;1)(q28.2;q13.1;28.2q21;p32.3)dn]

46;XY;t(4;14;4;1)(q28.2;q13.1;28.2q21;p32.3)dn

Variant type:
Translocation
Preferred name:
46;XY;t(4;14;4;1)(q28.2;q13.1;28.2q21;p32.3)dn

Condition(s)

Name:
Epicanthus
Synonyms:
Epicanthal fold
Identifiers:
MedGen: C0678230; OMIM: 131500; Human Phenotype Ontology: HP:0000286
Name:
Seizure
Synonyms:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250
Name:
Tapered finger
Synonyms:
Tapered fingers
Identifiers:
MedGen: C0426886; Human Phenotype Ontology: HP:0001182
Name:
Spasticity
Identifiers:
MedGen: C0026838; Human Phenotype Ontology: HP:0001257
Name:
Microtia
Identifiers:
MedGen: C0152423; Human Phenotype Ontology: HP:0008551
Name:
Abnormal facial shape
Synonyms:
Dysmorphic facies; Dysmorphic facial features
Identifiers:
MedGen: C0424503; Human Phenotype Ontology: HP:0001999
Name:
Absent speech
Synonyms:
Absent speech development
Identifiers:
MedGen: C1854882; Human Phenotype Ontology: HP:0001344
Name:
Downslanted palpebral fissures
Identifiers:
MedGen: C0423110; Human Phenotype Ontology: HP:0000494
Name:
Preauricular pit
Identifiers:
MedGen: C0266610; Human Phenotype Ontology: HP:0004467
Name:
Specific learning disability
Identifiers:
MONDO: MONDO:0016225; MedGen: C4025790; Human Phenotype Ontology: HP:0001328
Name:
Penile hypospadias
Identifiers:
MedGen: C1691215; Human Phenotype Ontology: HP:0003244
Name:
Microcephaly
Synonyms:
Microcephaly (disease)
Identifiers:
MONDO: MONDO:0001149; MedGen: C4551563; Human Phenotype Ontology: HP:0000252
Name:
Microretrognathia
Identifiers:
MedGen: C1839546; Human Phenotype Ontology: HP:0000308
Name:
Atresia of the external auditory canal
Identifiers:
MedGen: C0266597; Human Phenotype Ontology: HP:0000413
Name:
Abnormality of vision
Identifiers:
MedGen: C4025846; Human Phenotype Ontology: HP:0000504
Name:
Inability to walk
Identifiers:
MedGen: C0560046; Human Phenotype Ontology: HP:0002540
Name:
Posteriorly placed tongue
Identifiers:
MedGen: C4024600; Human Phenotype Ontology: HP:0009087
Name:
Intellectual disability, severe
Identifiers:
MedGen: C0036857; Human Phenotype Ontology: HP:0010864

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000320852Talkowski 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 novoresearch

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

Talkowski_Lab_Assertion_Criteria_for_BCA_2016.pdf

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

FOXG1 is responsible for the congenital variant of Rett syndrome.

Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli MA, Spanhol-Rosseto A, Pollazzon M, Buoni S, Spiga O, Ricciardi S, Meloni I, Longo I, Mari F, Broccoli V, Zappella M, Renieri A.

Am J Hum Genet. 2008 Jul;83(1):89-93. doi: 10.1016/j.ajhg.2008.05.015. Epub 2008 Jun 19.

PubMed [citation]
PMID:
18571142
PMCID:
PMC2443837

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.

Mencarelli MA, Spanhol-Rosseto A, Artuso R, Rondinella D, De Filippis R, Bahi-Buisson N, Nectoux J, Rubinsztajn R, Bienvenu T, Moncla A, Chabrol B, Villard L, Krumina Z, Armstrong J, Roche A, Pineda M, Gak E, Mari F, Ariani F, Renieri A.

J Med Genet. 2010 Jan;47(1):49-53. doi: 10.1136/jmg.2009.067884. Epub 2009 Jul 2.

PubMed [citation]
PMID:
19578037
See all PubMed Citations (6)

Details of each submission

From Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital, SCV000320852.1

#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: Dec 22, 2024