Proteinuric renal disease
Gene: NOP10
Comment on list classification: Promoting this gene from grey to red as there is one reported family with a missense variant in this gene and a phenotype that includes nephrotic syndrome.Created: 13 Jan 2021, 5:54 p.m. | Last Modified: 13 Jan 2021, 5:54 p.m.
Panel Version: 2.35
Variants in this gene have previously been associated with dyskeratosis congenita (bone marrow failure) characterized by telomere attrition. https://omim.org/entry/300126
As reported by expert reviewer PMID: 32554502 - Balogh et al 2020 - reports a pedigree in which 2 affected females presented with an infantile-onset disorder characterized by steroid-resistant nephrotic syndrome, cataracts (prior to steroid treatment), sensorineural deafness, and enterocolitis and died in early childhood. WES and linkage analysis identified a mutation in NOP10 (c.47C>T, p.Thr16Met) within a region of homozygosity.Created: 13 Jan 2021, 5:54 p.m. | Last Modified: 13 Jan 2021, 5:54 p.m.
Panel Version: 2.34
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
2 affected females in one pedigree
Sources: LiteratureCreated: 18 Nov 2020, 11:06 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
steroid-resistant 6 nephrotic syndrome; cataracts (prior to steroid treatment); sensorineural deafness; enterocolitis
Publications
Gene: nop10 has been classified as Red List (Low Evidence).
gene: NOP10 was added gene: NOP10 was added to Proteinuric renal disease. Sources: Literature Mode of inheritance for gene: NOP10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NOP10 were set to 32554502 Phenotypes for gene: NOP10 were set to steroid-resistant 6 nephrotic syndrome; cataracts (prior to steroid treatment); sensorineural deafness; enterocolitis Penetrance for gene: NOP10 were set to unknown Review for gene: NOP10 was set to RED