NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser) AND Cranioectodermal dysplasia 4

Clinical significance:Pathogenic (Last evaluated: Sep 12, 2013)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:

Allele description [Variation Report for NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)]

NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)

WDR19:WD repeat domain 19 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)
  • NC_000004.12:g.39231943T>C
  • NG_031813.1:g.54540T>C
  • NM_001317924.2:c.1649T>C
  • NM_025132.4:c.2129T>CMANE SELECT
  • NP_001304853.1:p.Leu550Ser
  • NP_079408.3:p.Leu710Ser
  • NC_000004.11:g.39233563T>C
  • NM_025132.3:c.2129T>C
  • Q8NEZ3:p.Leu710Ser
Protein change:
L550S; LEU710SER
UniProtKB: Q8NEZ3#VAR_067314; OMIM: 608151.0001; dbSNP: rs387906980
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001317924.2:c.1649T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_025132.4:c.2129T>C - missense variant - [Sequence Ontology: SO:0001583]


Cranioectodermal dysplasia 4 (CED4)
MONDO: MONDO:0013719; MedGen: C3280616; Orphanet: 1515; OMIM: 614378

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000044972OMIMno assertion criteria providedPathogenic
(Aug 1, 2013)
germlineliterature only

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

SCV000087013GeneReviewsno assertion criteria providedpathologic
(Sep 12, 2013)
not providedcuration

Summary from all submissions

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



Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.

Bredrup C, Saunier S, Oud MM, Fiskerstrand T, Hoischen A, Brackman D, Leh SM, Midtbø M, Filhol E, Bole-Feysot C, Nitschké P, Gilissen C, Haugen OH, Sanders JS, Stolte-Dijkstra I, Mans DA, Steenbergen EJ, Hamel BC, Matignon M, Pfundt R, Jeanpierre C, Boman H, et al.

Am J Hum Genet. 2011 Nov 11;89(5):634-43. doi: 10.1016/j.ajhg.2011.10.001. Epub 2011 Oct 20.

PubMed [citation]

WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.

Coussa RG, Otto EA, Gee HY, Arthurs P, Ren H, Lopez I, Keser V, Fu Q, Faingold R, Khan A, Schwartzentruber J, Majewski J, Hildebrandt F, Koenekoop RK.

Clin Genet. 2013 Aug;84(2):150-9. doi: 10.1111/cge.12196.

PubMed [citation]

Details of each submission

From OMIM, SCV000044972.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)


Cranioectodermal Dysplasia 4

In a Norwegian sister and brother with Sensenbrenner syndrome (cranioectodermal dysplasia-4; 614378), Bredrup et al. (2011) identified compound heterozygosity for a 2129T-C transition in exon 18 of the WDR19 gene, resulting in a leu710-to-ser (L710S) substitution, and a 3307C-T transition in exon 30, resulting in an arg1103-to-ter (R1103X; 608151.0002) substitution. Each unaffected parent was heterozygous for 1 of the mutations, which were not found in 422 Norwegian controls. No IFT144 was detected in the cilia of patient fibroblasts, indicating a complete loss of function; in addition, there was significant reduction in the number of ciliated cells as well as in cilium length of most cilia that were observed compared to cilia of control fibroblasts.

Senior-Loken Syndrome 8

In affected members of a consanguineous French Canadian family with retinitis pigmentosa and renal cysts (SLSN8; 616307), who were negative for mutation in all known autosomal recessive retinitis pigmentosa-associated genes, Coussa et al. (2013) identified homozygosity for the c.2129T-C mutation (c.2129T-C, NM_025132.3) in the WDR19 gene, resulting in the L710S substitution.

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

From GeneReviews, SCV000087013.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided


Converted during submission to Pathogenic.

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: May 10, 2021

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