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NM_001379403.1(WDR26):c.1576G>T (p.Glu526Ter) AND Skraban-Deardorff syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 15, 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:
RCV000497821.1

Allele description [Variation Report for NM_001379403.1(WDR26):c.1576G>T (p.Glu526Ter)]

NM_001379403.1(WDR26):c.1576G>T (p.Glu526Ter)

Gene:
WDR26:WD repeat domain 26 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q42.12
Genomic location:
Preferred name:
NM_001379403.1(WDR26):c.1576G>T (p.Glu526Ter)
HGVS:
  • NC_000001.11:g.224404453C>A
  • NG_047198.1:g.34847G>T
  • NM_001115113.3:c.1228G>T
  • NM_001379403.1:c.1576G>TMANE SELECT
  • NM_025160.7:c.1276G>T
  • NP_001108585.2:p.Glu410Ter
  • NP_001366332.1:p.Glu526Ter
  • NP_079436.4:p.Glu426Ter
  • NP_079436.4:p.Glu426Ter
  • NC_000001.10:g.224592155C>A
  • NM_025160.6:c.1276G>T
Protein change:
E410*; GLU426TER
Links:
OMIM: 617424.0001; dbSNP: rs1553354926
NCBI 1000 Genomes Browser:
rs1553354926
Molecular consequence:
  • NM_001115113.3:c.1228G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001379403.1:c.1576G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_025160.7:c.1276G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Skraban-Deardorff syndrome
Synonyms:
INTELLECTUAL DISABILITY WITH SEIZURES, ABNORMAL GAIT, AND DISTINCTIVE FACIAL FEATURES
Identifiers:
MONDO: MONDO:0054636; MedGen: C4539927; OMIM: 617616

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000590797OMIM
no assertion criteria provided
Pathogenic
(Aug 15, 2017) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

Skraban CM, Wells CF, Markose P, Cho MT, Nesbitt AI, Au PYB, Begtrup A, Bernat JA, Bird LM, Cao K, de Brouwer APM, Denenberg EH, Douglas G, Gibson KM, Grand K, Goldenberg A, Innes AM, Juusola J, Kempers M, Kinning E, Markie DM, Owens MM, et al.

Am J Hum Genet. 2017 Jul 6;101(1):139-148. doi: 10.1016/j.ajhg.2017.06.002.

PubMed [citation]
PMID:
28686853
PMCID:
PMC5501873

Details of each submission

From OMIM, SCV000590797.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 4-year-old girl (individual 1) with Skraban-Deardorff syndrome (SKDEAS; 617616), Skraban et al. (2017) identified a de novo heterozygous c.1276G-T transversion (c.1276G-T, NM_025160.6) in exon 8 of the WDR26 gene, resulting in a glu426-to-ter (E426X) substitution. The mutation was found by trio exome sequencing. Functional studies of the variant and studies of patient cells were not performed.

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

Last Updated: Apr 23, 2022