GRCh37/hg19 7q35(chr7:146997280-146997587) AND Cortical dysplasia-focal epilepsy syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 16, 2020
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:: RCV001195136.1

Allele description [Variation Report for GRCh37/hg19 7q35(chr7:146997280-146997587)]

GRCh37/hg19 7q35(chr7:146997280-146997587)

Gene:: CNTNAP2:contactin associated protein 2 [Gene - OMIM - HGNC]
Variant type:: copy number loss
Cytogenetic location:: 7q35
Genomic location:: Chr7: 146997280 - 146997587 (on Assembly GRCh37)
Preferred name:: GRCh37/hg19 7q35(chr7:146997280-146997587)
HGVS:: NC_000007.13:g.(?_146997280)_(146997587_?)del
This HGVS expression did not pass validation
Observations:: 1

Condition(s)

Name:: Cortical dysplasia-focal epilepsy syndrome (PTHSL1)
Synonyms:: Pitt-Hopkins-like syndrome 1
Identifiers:: MONDO: MONDO:0012400; MedGen: C2750246; Orphanet: 221150; OMIM: 610042

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001334094	Department of Molecular and Human Genetics, Baylor College of Medicine	no assertion criteria provided	Pathogenic (Apr 16, 2020)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001334094

Department of Molecular and Human Genetics, Baylor College of Medicine

no assertion criteria provided

Pathogenic
(Apr 16, 2020)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.

Yuan B, Wang L, Liu P, Shaw C, Dai H, Cooper L, Zhu W, Anderson SA, Meng L, Wang X, Wang Y, Xia F, Xiao R, Braxton A, Peacock S, Schmitt E, Ward PA, Vetrini F, He W, Chiang T, Muzny D, Gibbs RA, et al.

Genet Med. 2020 Oct;22(10):1633-1641. doi: 10.1038/s41436-020-0864-8. Epub 2020 Jun 24.

PubMed [citation]

PMID:: 32576985
PMCID:: PMC8445517

Details of each submission

From Department of Molecular and Human Genetics, Baylor College of Medicine, SCV001334094.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Aug 5, 2023

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