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

Phospholipase C, epsilon-1

The PLCE1 gene belongs to the phospholipase family. Mutations cause autosomal recessive congenital nephrotic syndrome type 3.

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 25 days
Specimen type genomic DNA

Related Diseases:

Congenital nephrotic syndrome type 03
PLCE1

References:

1.

Hinkes B et al. (2006) Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.

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2.

Morgan AR et al. (2007) Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease.

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3.

Jefferson JA et al. (2007) Familial nephrotic syndrome: PLCE1 enters the fray.

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4.

Copelovitch L et al. (2007) Renin-angiotensin axis blockade reduces proteinuria in presymptomatic patients with familial FSGS.

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5.

Chaib H et al. (2008) Identification of BRAF as a new interactor of PLCepsilon1, the protein mutated in nephrotic syndrome type 3.

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6.

Gbadegesin R et al. (2008) Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS).

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7.

None (2008) NPHS3: new clues for understanding idiopathic nephrotic syndrome.

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8.

Löwik M et al. (2008) Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis.

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9.

NCBI article

NCBI 51196 external link
10.

OMIM.ORG article

Omim 608414 external link
11.

Orphanet article

Orphanet ID 159233 external link
12.

Wikipedia article

Wikipedia EN (PLCE1) external link
Update: Aug. 14, 2020
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