Proteinuric renal disease

Gene: ITSN1

Green List (high evidence)

Comment on list classification: 3 families with variants in this gene and a nephrotic syndrome phenotype

Created: 30 Mar 2019, 8:47 p.m.

Not associated with any phenotype in OMIM but last update was in 2007

PMID: 29773874 - Ashraf et al 2018 - 3 unrelated families with rare ITSN1 variants and SRNS/CNS or SSNS. Using HM and WES in two siblings of Arab family A3706 with early-onset NS they identified a homozygous missense mutation of ITSN1 at a highly conserved amino acid residue (p.Pro180Ser). By high-throughput sequencing, they identified two additional families (A977 and A2274) with four additional compound heterozygous missense mutations of ITSN1.

Created: 30 Mar 2019, 8:46 p.m.

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: ITSN1; Suggested initial gene rating: green; Evidence for inclusion: PMID: 29773874; Other comments: Four patients in three unrelated families with rare AR variants in ITSN1

Created: 4 Feb 2019, 10:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Early childhood SSNS

Publications

• PMID: 29773874