Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

WD repeat-containing protein 60

The WDR60 gene encodes a protein that is involved in various processes of cell regulation. Mutations cause ausotomal recessive Short-rib thoracic dysplasia with or without polydactyly 8.

Genetests:

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

Related Diseases:

Short-rib thoracic dysplasia with or without polydactyly 08
WDR60

References:

1.

McInerney-Leo AM et al. (2013) Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.

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2.

Ishikawa H et al. (2012) Proteomic analysis of mammalian primary cilia.

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3.

Orphanet article

Orphanet ID 363310 [^]
4.

NCBI article

NCBI 55112 [^]
5.

OMIM.ORG article

Omim 615462 [^]
Update: April 29, 2019