Proteinuric renal disease
Gene: NPHS1
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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Congenital nephrotic syndromeCreated: 27 May 2016, 12:38 p.m.
Phenotypes for gene: NPHS1 were changed from to Nephrotic syndrome, type 1 #602716
Source NHS GMS was added to NPHS1. 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 NPHS1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
NPHS1 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
NPHS1 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing