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NM_016373.4(WWOX):c.705dup (p.His236fs) AND Developmental and epileptic encephalopathy, 28

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 23, 2023
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:
RCV003325982.1

Allele description [Variation Report for NM_016373.4(WWOX):c.705dup (p.His236fs)]

NM_016373.4(WWOX):c.705dup (p.His236fs)

Gene:
WWOX:WW domain containing oxidoreductase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
16q23.1
Genomic location:
Preferred name:
NM_016373.4(WWOX):c.705dup (p.His236fs)
HGVS:
  • NC_000016.10:g.78424969dup
  • NG_011698.1:g.330316dup
  • NM_001291997.2:c.366dup
  • NM_016373.4:c.705dupMANE SELECT
  • NP_001278926.1:p.His123fs
  • NP_057457.1:p.His236fs
  • NC_000016.9:g.78458862_78458863insG
  • NC_000016.9:g.78458866dup
Protein change:
H123fs
Links:
dbSNP: rs1597216056
NCBI 1000 Genomes Browser:
rs1597216056
Molecular consequence:
  • NM_001291997.2:c.366dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_016373.4:c.705dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Developmental and epileptic encephalopathy, 28 (DEE28)
Synonyms:
Epileptic encephalopathy, early infantile, 28
Identifiers:
MONDO: MONDO:0014533; MedGen: C4015519; Orphanet: 442835; OMIM: 616211

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003853398Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 23, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.

Piard J, Hawkes L, Milh M, Villard L, Borgatti R, Romaniello R, Fradin M, Capri Y, Héron D, Nougues MC, Nava C, Arsene OT, Shears D, Taylor J, Pagnamenta A, Taylor JC, Sogawa Y, Johnson D, Firth H, Vasudevan P, Jones G, Nguyen-Morel MA, et al.

Genet Med. 2019 Jun;21(6):1308-1318. doi: 10.1038/s41436-018-0339-3. Epub 2018 Oct 25. Review. Erratum in: Genet Med. 2019 Jul;21(7):1667-1671. doi: 10.1038/s41436-019-0460-y.

PubMed [citation]
PMID:
30356099
PMCID:
PMC6752669

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, SCV003853398.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 28, 2024