Proteinuric renal disease
Gene: PLCE1EnsemblGeneIds (GRCh38): ENSG00000138193
EnsemblGeneIds (GRCh37): ENSG00000138193
OMIM: 608414, Gene2Phenotype
PLCE1 is in 5 panels
4 reviews
Eleanor Williams (Genomics England Curator)
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
- PMID: 20591883
Variants in this GENE are reported as part of current diagnostic practice
Daniel Gale (UCL)
Ellen Thomas (Genomics England Curator)
Comment on list classification: Good evidenceCreated: 27 May 2016, 12:42 p.m.
Maggie Williams (North Bristol NHS Trust)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
- Phenotypes
-
- Nephrotic syndrome, type 3 #610725
- Congenital nephrotic syndrome/SRNS
- OMIM
- 608414
- Clinvar variants
- Variants in PLCE1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: PLCE1 were changed from to Nephrotic syndrome, type 3 #610725; Congenital nephrotic syndrome/SRNS
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: PLCE1 were set to
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to PLCE1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for PLCE1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)PLCE1 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)PLCE1 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing