t(7;13)(q31.1;q13.2) AND Childhood apraxia of speech

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 2, 2016
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000234949.1

Allele description [Variation Report for t(7;13)(q31.1;q13.2)]

t(7;13)(q31.1;q13.2)

Genes:

FOXP2:forkhead box P2 [Gene - OMIM - HGNC]
RFC3:replication factor C subunit 3 [Gene - OMIM - HGNC]

Variant type:

Translocation

Cytogenetic location:

13q13.2

Genomic location:

Preferred name:

t(7;13)(q31.1;q13.2)

Condition(s)

Name:: Childhood apraxia of speech (SPCH1)
Synonyms:: DEVELOPMENTAL VERBAL DYSPRAXIA; SPEECH AND LANGUAGE DISORDER WITH OROFACIAL DYSPRAXIA; Speech-language disorder 1
Identifiers:: MONDO: MONDO:0011184; MedGen: C0750927; Orphanet: 209908; OMIM: 602081

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000292272	GeneReviews	no assertion criteria provided	Pathogenic (Mar 2, 2016)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 16787893, 19797137 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000292272

GeneReviews

no assertion criteria provided

Pathogenic
(Mar 2, 2016)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
American	germline	yes	2	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Speech, prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2.

Shriberg LD, Ballard KJ, Tomblin JB, Duffy JR, Odell KH, Williams CA.

J Speech Lang Hear Res. 2006 Jun;49(3):500-25.

PubMed [citation]

PMID:: 16787893

Language features in a mother and daughter of a chromosome 7;13 translocation involving FOXP2.

Tomblin JB, O'Brien M, Shriberg LD, Williams C, Murray J, Patil S, Bjork J, Anderson S, Ballard K.

J Speech Lang Hear Res. 2009 Oct;52(5):1157-74. doi: 10.1044/1092-4388(2009/07-0162).

PubMed [citation]

PMID:: 19797137
PMCID:: PMC2760059

Details of each submission

From GeneReviews, SCV000292272.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	American	2	not provided	not provided	literature only	PubMed (2)

Description

Speech: CAS & spastic dysarthria Oromotor: No orofacial apraxia Language: Impaired expressive & receptive Cognition: Low Average

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided

Last Updated: Feb 7, 2023

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