Proteinuric renal disease
Gene: INF2
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: INF2; Suggested initial gene rating: green; Evidence for inclusion: none provided; Other comments: Many relevant publications in pubmedCreated: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Glomerulosclerosis, focal segmental, 5 #613237
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of pathogenicity: Missense variants reported to date.Created: 27 May 2016, 12:15 p.m.
Comment on list classification: Good evidence and current diagnostic.Created: 27 May 2016, 12:14 p.m.
4 AD families diagnosed in UK lab on renal panel testCreated: 19 Oct 2015, 2:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Adult onset nephrotic syndrome (+CMT)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Pathogenic heterozygous missense or indel mutations cluster in the N-terminal autoinhibitory diaphanous-inhibitory domain (exons 2-4), suggesting a gain-of-function disease mechanism.Created: 7 Oct 2015, 11:21 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
FSGS; proteinuria; renal failure
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: INF2 were set to
Phenotypes for gene: INF2 were changed from to Glomerulosclerosis, focal segmental, 5 #613237; Adult onset nephrotic syndrome (+CMT); FSGS; proteinuria; renal failure
Source NHS GMS was added to INF2. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of pathogenicity for INF2 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mode of inheritance for INF2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
INF2 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
INF2 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing