Proteinuric renal disease
Gene: PLCE1
This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: PLCE1; Suggested initial gene rating: green; Evidence for inclusion: PMID: 20591883; Other comments: Multiple reports in the literature. 6 positive diagnostic cases in >600 SRNS referralsCreated: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome, type 3 #610725
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Good evidenceCreated: 27 May 2016, 12:42 p.m.
2 positive diagnostic cases UK gene panel testing.Created: 19 Oct 2015, 3:06 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital nephrotic syndrome/SRNS
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: PLCE1 were changed from to Nephrotic syndrome, type 3 #610725; Congenital nephrotic syndrome/SRNS
Publications for gene: PLCE1 were set to
Source NHS GMS was added to PLCE1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for PLCE1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
PLCE1 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
PLCE1 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing