Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

RPGRIP1-LIKE

The gene RPGRIP1L encodes a centrosome associated protein involved in microtubule organization. Mutations cause various autosomal recessive ciliopathies such as Meckel syndrome 5, Joubert syndrome 7, nephronophthisis 08 and COACH syndrome.

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 08
RPGRIP1L
Joubert syndrome 07
RPGRIP1L
Meckel syndrome 05
RPGRIP1L
COACH syndrome
CC2D2A
RPGRIP1L
TMEM67

References:

1.

Khanna H et al. (2009) A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

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2.

Nagase T et al. (1999) Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

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3.

Williams CL et al. (2011) MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis.

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4.

Doherty D et al. (2010) Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

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5.

Arts HH et al. (2007) Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.

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6.

Delous M et al. (2007) The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.

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7.

Brancati F et al. (2008) RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.

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8.

Wolf MT et al. (2007) Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.

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9.

OMIM.ORG article

Omim 610937 external link
10.

Orphanet article

Orphanet ID 140541 external link
11.

NCBI article

NCBI 23322 external link
12.

Wikipedia article

Wikipedia EN (RPGRIP1L) external link
Update: Aug. 14, 2020
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