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Single allele AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 3, 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:
RCV000677998.2

Allele description [Variation Report for Single allele]

Genes:
MDFIC:MyoD family inhibitor domain containing [Gene - OMIM - HGNC]
FOXP2:forkhead box P2 [Gene - OMIM - HGNC]
TES:testin LIM domain protein [Gene - OMIM - HGNC]
TFEC:transcription factor EC [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7q31.1-31.2
Genomic location:
Chr7: 113898258 - 116067175 (on Assembly GRCh37)
HGVS:
NC_000007.13:g.113898258_116067175del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000804153Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
criteria provided, single submitter

(ACMG CNV Guidelines, 2011)		Pathogenic
(Apr 3, 2018) 		unknownprovider interpretation

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedprovider interpretation

Citations

PubMed

A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2.

Fedorenko E, Morgan A, Murray E, Cardinaux A, Mei C, Tager-Flusberg H, Fisher SE, Kanwisher N.

Eur J Hum Genet. 2016 Feb;24(2):310. doi: 10.1038/ejhg.2015.230. No abstract available.

PubMed [citation]
PMID:
26763793
PMCID:
PMC4717201

Behavioural analysis of an inherited speech and language disorder: comparison with acquired aphasia.

Watkins KE, Dronkers NF, Vargha-Khadem F.

Brain. 2002 Mar;125(Pt 3):452-64.

PubMed [citation]
PMID:
11872604
See all PubMed Citations (4)

Details of each submission

From Geisinger Autism and Developmental Medicine Institute, Geisinger Health System, SCV000804153.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedprovider interpretation PubMed (4)

Description

This approximately 2.2 Mb deletion was identified in a 13 year old female with a history of autism spectrum disorder, intellectual disability, and disruptive behavior. The deleted region includes 4 genes, including FOXP2. Loss of function FOXP2 variants are associated with speech and language disorders (Watkins et al 2002; Laffin et al. 2012; Fedorenko et al. 2016). Parental testing has not been completed to date.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 11, 2022