NM_023067.3(FOXL2):c.748_749delGG (p.Gly250Profs) AND Blepharophimosis, ptosis, and epicanthus inversus

Clinical significance:Pathogenic (Last evaluated: Nov 3, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000408856.1

Allele description

NM_023067.3(FOXL2):c.748_749delGG (p.Gly250Profs)

Gene:
FOXL2:forkhead box L2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3q22.3
Genomic location:
Preferred name:
NM_023067.3(FOXL2):c.748_749delGG (p.Gly250Profs)
HGVS:
  • NC_000003.12:g.138945974_138945975delCC
  • NG_012454.1:g.6166_6167delGG
  • NM_023067.3:c.748_749delGG
  • NP_075555.1:p.Gly250Profs
  • NC_000003.11:g.138664816_138664817delCC
  • p.[Gly250Profs*283]
Links:
dbSNP: rs1057516175
NCBI 1000 Genomes Browser:
rs1057516175
Molecular consequence:
  • NM_023067.3:c.748_749delGG - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Blepharophimosis, ptosis, and epicanthus inversus (BPES)
Identifiers:
MedGen: C0220663; Orphanet: 126; OMIM: 110100
Age of onset:
Neonatal
Prevalence:
1-9 / 100 000 126

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000484888Division of Genomic Diagnostics,The Children's Hospital of Philadelphiacriteria provided, single submitter
Pathogenic
(Nov 3, 2016)
germlineclinical testing

DGD_Variant_Analysis_Guidelines.docx

Citation Link

Description

Clinical Testing

SCV000484888

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Division of Genomic Diagnostics,The Children's Hospital of Philadelphia, SCV000484888.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 15, 2017