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

Inversin

The gene controls embryonic turning. Mutations cause situs inversus and infantile nephronophthisis.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 30 days
Specimen type genomic DNA

Related Diseases:

Nephronophthisis 02
INVS

References:

1.

Otto EA et al. (2003) Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.

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2.

O'Toole JF et al. (2007) Mutational analysis in 119 families with nephronophthisis.

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3.

Gagnadoux MF et al. (1989) Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity?

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4.

Haider NB et al. (1998) A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping.

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5.

Simons M et al. (2005) Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways.

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6.

Mochizuki T et al. (1998) Cloning of inv, a gene that controls left/right asymmetry and kidney development.

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7.

Orphanet article

Orphanet ID 122667 external link
8.

NCBI article

NCBI 27130 external link
9.

OMIM.ORG article

Omim 243305 external link
10.

Wikipedia article

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