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| Proteinuric renal disease v1.39 | NUP107 | Eleanor Williams Phenotypes for gene: NUP107 were changed from to Nephrotic syndrome, type 11 #616730 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.38 | NUP107 | Eleanor Williams Publications for gene: NUP107 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.37 | NUP107 | Eleanor Williams Mode of inheritance for gene: NUP107 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.36 | NUP107 | Eleanor Williams Classified gene: NUP107 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.36 | NUP107 | Eleanor Williams Added comment: Comment on list classification: 3 families with variants in this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.36 | NUP107 | Eleanor Williams Gene: nup107 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.35 | NUP107 | Eleanor Williams commented on gene: NUP107: Following discussion with some members of the GMS Renal Specialist Test group on 2019-03-22 it was agreed that although it is clearly rare with no variants found in >600 cases in Bristol, it is appropriate for inclusion in the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.35 | NUP107 |
Eleanor Williams edited their review of gene: NUP107: Added comment: Associated with Galloway-Mowat syndrome 7 (618348) and Nephrotic syndrome, type 11 (616730) in OMIM. PMID: 26411495 - Miyake et al 2015 - biallelic NUP107 mutations in nine affected individuals who are from five unrelated families and show early-onset steroid-resistant nephrotic syndrome (SRNS). All individuals were compound heterozgyous, and all had a c.2492A>C (p.Asp831Ala) variant in common. This variant, c.2492A>C, was observed at a frequency of 0.0013587 only in HGVD, but not in the EVS, ExAC Browser, or in-house Japanese exome database. Three other variants were found in addition - c.469G>T (p.Asp157Tyr),c.969+1G>A (splice site) and c.1079_1083delAAGAG (p.Glu360Glyfs∗6). PMID: 30179222 - Braun et al 2018 - homozgyous or compound heterozygous variants found in 7 families with SRNS.. The same homozygous missense mutation (c.303G>A, p.Met101Ile) in NUP107 was detected 5 consanguineous families with SRNS and represents a South Asian founder allele. They also detected a homozygous missense mutation of NUP107 (c.2666A>G, p.Tyr889Cys) in family A3825 and 2 compound heterozygous alleles (c.1021dup, p.Glu341Glyfs*3, and c.2129_2131delAAG, p.Glu710del) of NUP107 in family A1830.; Changed publications: PMID: 26411495, PMID 30179222 |
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| Proteinuric renal disease v1.16 | NUP107 | Eleanor Williams reviewed gene: NUP107: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 26411495, PMID 30179222 ; Phenotypes: Nephrotic syndrome, type 11 #616730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.15 | NUP107 |
Eleanor Williams gene: NUP107 was added gene: NUP107 was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: NUP107 was set to |
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