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| Proteinuric renal disease v2.75 | ITSN1 | Arina Puzriakova Tag gene-checked tag was added to gene: ITSN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.63 | ITSN1 | Eleanor Williams Phenotypes for gene: ITSN1 were changed from to Early childhood SSNS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.62 | ITSN1 | Eleanor Williams Publications for gene: ITSN1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.61 | ITSN1 | Eleanor Williams Mode of inheritance for gene: ITSN1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.60 | ITSN1 | Eleanor Williams Classified gene: ITSN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.60 | ITSN1 | Eleanor Williams Added comment: Comment on list classification: 3 families with variants in this gene and a nephrotic syndrome phenotype | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.60 | ITSN1 | Eleanor Williams Gene: itsn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.59 | ITSN1 |
Eleanor Williams commented on gene: ITSN1: 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. |
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| Proteinuric renal disease v1.16 | ITSN1 | Eleanor Williams reviewed gene: ITSN1: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 29773874; Phenotypes: Early childhood SSNS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.15 | ITSN1 |
Eleanor Williams gene: ITSN1 was added gene: ITSN1 was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: ITSN1 was set to |
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