Single allele AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 3, 2017
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:: RCV000577886.1

Allele description [Variation Report for Single allele]

Gene:: BPTF:bromodomain PHD finger transcription factor [Gene - OMIM - HGNC]
Variant type:: Deletion
Cytogenetic location:: 17q24.2
Genomic location:: Chr17: 65898399 - 65986986 (on Assembly GRCh37)
HGVS:: NC_000017.10:g.(65898399_65898404)_(65986981_65986986)del
This HGVS expression did not pass validation

Condition(s)

Name:: Global developmental delay (DD)
Identifiers:: MedGen: C0557874; Human Phenotype Ontology: HP:0001263

Name:: Expressive language delay
Identifiers:: MedGen: C0454641; Human Phenotype Ontology: HP:0002474

Name:: Secondary microcephaly
Synonyms:: Postnatal microcephaly
Identifiers:: MedGen: C0431352; Human Phenotype Ontology: HP:0005484

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000584204	Baylor Genetics - BPTF_variants	no assertion criteria provided	Pathogenic (Jul 3, 2017)	germline	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

SCV000584204

Baylor Genetics - BPTF_variants

no assertion criteria provided

Pathogenic
(Jul 3, 2017)

germline

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
Hispanic American	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

Stankiewicz P, Khan TN, Szafranski P, Slattery L, Streff H, Vetrini F, Bernstein JA, Brown CW, Rosenfeld JA, Rednam S, Scollon S, Bergstrom KL, Parsons DW, Plon SE, Vieira MW, Quaio CRDC, Baratela WAR, Acosta Guio JC, Armstrong R, Mehta SG, Rump P, Pfundt R, et al.

Am J Hum Genet. 2017 Oct 5;101(4):503-515. doi: 10.1016/j.ajhg.2017.08.014. Epub 2017 Sep 21.

PubMed [citation]

PMID:: 28942966
PMCID:: PMC5630163

Details of each submission

From Baylor Genetics - BPTF_variants, SCV000584204.1

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

Description

This deletion involving BPTF alone was observed once in our laboratory (inheritance unknown) in a 4-year-old female with short stature, autistic features, speech delay, microcephaly, dysmorphic features, failure to thrive.

#	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		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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