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| Proteinuric renal disease v2.75 | TNS2 | Eleanor Williams Tag gene-checked tag was added to gene: TNS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.84 | TNS2 | Eleanor Williams Phenotypes for gene: TNS2 were changed from to nephrotic syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.83 | TNS2 | Eleanor Williams Publications for gene: TNS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.82 | TNS2 | Eleanor Williams Mode of inheritance for gene: TNS2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.81 | TNS2 | Eleanor Williams Classified gene: TNS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.81 | TNS2 | Eleanor Williams Added comment: Comment on list classification: Rating green as there are 4 unrelated families (plus another with possible founder mutation in common with one of the 4) with variants in this gene and a relevant phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.81 | TNS2 | Eleanor Williams Gene: tns2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.80 | TNS2 |
Eleanor Williams commented on gene: TNS2: No association with any phenotype in OMIM or Gene2Phenotype. PMID : 29773874 - Ashraf et al 2018 - homozygosity mapping combined with whole exome sequencing in multiple families with Nephrotic syndrome. TNS2 variants found in 5 families (1 Turkish, 1 European, 1 Nigerian, 2 Indian). 3 families showed homozygous variants, 2 compound heterozygous. One Indian family was homozygous for a c.2574C>G p.Ile858Met variant. The other Indian family was compound heterozygous for this variant and another c.1693C>T p.Arg565Trp suggesting that the c.2574C>G variant may be a founder allele. Altered amino acid residues were well conserved throughout evolution |
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| Proteinuric renal disease v1.16 | TNS2 | Eleanor Williams reviewed gene: TNS2: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID : 29773874; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.15 | TNS2 |
Eleanor Williams gene: TNS2 was added gene: TNS2 was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: TNS2 was set to |
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