Proteinuric renal disease
Gene: NPHS1EnsemblGeneIds (GRCh38): ENSG00000161270
EnsemblGeneIds (GRCh37): ENSG00000161270
OMIM: 602716, Gene2Phenotype
NPHS1 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: NPHS1; Suggested initial gene rating: green; Evidence for inclusion: none provided; Other comments: Many relevant publications in pubmed. Reported multiple times in SRNS gene panel cohort.Created: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome, type 1 #602716
Variants in this GENE are reported as part of current diagnostic practice
Maggie Williams (North Bristol NHS Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Daniel Gale (UCL)
Ellen Thomas (Genomics England Curator)
Comment on list classification: Congenital nephrotic syndromeCreated: 27 May 2016, 12:38 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
- Phenotypes
-
- Nephrotic syndrome, type 1 #602716
- OMIM
- 602716
- Clinvar variants
- Variants in NPHS1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: NPHS1 were changed from to Nephrotic syndrome, type 1 #602716
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to NPHS1. 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 NPHS1 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)NPHS1 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)NPHS1 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing