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| Proteinuric renal disease v1.215 | NUP133 | Eleanor Williams Classified gene: NUP133 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.215 | NUP133 | Eleanor Williams Added comment: Comment on list classification: Following discussion with some members of the GMS Renal Specialist Test group on 2019-03-22 it was agreed that proteinuria is a relevant feature of Galloway-Mowat syndrome. Sufficient cases to rate green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.215 | NUP133 | Eleanor Williams Gene: nup133 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.23 | NUP133 | Eleanor Williams Phenotypes for gene: NUP133 were changed from to ?Galloway-Mowat syndrome 8 618349; Nephrotic syndrome, type 18 618177 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.22 | NUP133 | Eleanor Williams Publications for gene: NUP133 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.21 | NUP133 | Eleanor Williams Mode of inheritance for gene: NUP133 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.20 | NUP133 |
Eleanor Williams edited their review of gene: NUP133: Added comment: This gene has a provisional association with ?Galloway-Mowat syndrome 8 (618349) and an association with Nephrotic syndrome, type 18 (618177) in OMIM. Following discussion with some members of the GMS Renal Specialist Test group on 2019-03-22 it was agreed that proteinuria is a relevant feature of this condition, and NUP133 should be included on the Proteinuric renal disease panel. PMID: 30179222 - Braun et al. (2018) - 2 families with nonsyndromic SRNS. In consanguineous family F797-21 they identified a homozygous (c.2922T>G, p.Ser974Arg) variant in 1 patient, and in a second family they identified compound heterozygous missense mutations (c.691C>G, p.Arg231Gly, and c.3164T>C, p.Leu1055Ser) in two siblings (A2174-21 and A2174-22). PMID: 30427554 - Fujita et al (2018) - identified a homozygous NUP133 mutation, c.3335-11T>A, which results in the insertion of 9bp of intronic sequence between exons 25 and 26 in the mutant transcript. A nup133-knockdown zebrafish model exhibited microcephaly, fewer neuronal cells, underdeveloped glomeruli, and fusion of the foot processes of the podocytes, which mimicked human GAMOS features. nup133 morphants could be rescued by human wild-type NUP133 mRNA but not by mutant mRNA; Changed publications: PMID: 30179222 |
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| Proteinuric renal disease v1.16 | NUP133 | Eleanor Williams reviewed gene: NUP133: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 30179222 ; Phenotypes: Nephrotic syndrome, type 18 #618177; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.15 | NUP133 |
Eleanor Williams gene: NUP133 was added gene: NUP133 was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: NUP133 was set to |
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