Proteinuric renal disease

Gene: INF2

Green List (high evidence)

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 pubmed

Created: 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.

Green List (high evidence)

4 AD families diagnosed in UK lab on renal panel test

Created: 19 Oct 2015, 2:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Adult onset nephrotic syndrome (+CMT)

Publications

• Nephrol Dial Transplant (2014) 29: iv80–iv86

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

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

• PubMed: 20023659

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