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WD repeat-containing protein 19

The WDR19 gene encodes a ciliary protein that is responsible for intraflagellar transport. Mutations cause various recessive ciliopathies such as Senior-Loken syndrome 8, and Nephronophthisis 13.

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Nephronophthisis 13
WDR19
Senior-Loken syndrome 8
WDR19
Short-rib thoracic dysplasia with or without polydactyly 05
WDR19
Cranioectodermal dysplasia 4
WDR19

References:

1.

Bredrup C et al. (2011) Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.

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2.

Halbritter J et al. (2013) Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

external link
3.

Coussa RG et al. (2013) WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.

external link
4.

de Vries J et al. (2010) Jeune syndrome: description of 13 cases and a proposal for follow-up protocol.

external link
5.

Lin B et al. (2003) Isolation and characterization of human and mouse WDR19,a novel WD-repeat protein exhibiting androgen-regulated expression in prostate epithelium.

external link
6.

NCBI article

NCBI 57728 external link
7.

OMIM.ORG article

Omim 608151 external link
8.

Orphanet article

Orphanet ID 285468 external link
Update: Aug. 14, 2020
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