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| Proteinuric renal disease v2.34 | DKC1 |
Eleanor Williams changed review comment from: 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 large pedigree in which 6 affected males 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. Using linkage analysis they identified a point mutation in DKC1 (c.616 G>A, p.Glu206Lys) that segregated with the disease in generation II. The variant is absent from gnomAD.; to: 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 large pedigree in which 6 affected males 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. Using linkage analysis they identified a point mutation in DKC1 (c.616 G>A, p.Glu206Lys) that segregated with the disease in generation II. The variant is absent from gnomAD. An affected female was found to have skewed x-inactivation. |
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| Proteinuric renal disease v2.34 | DKC1 | Eleanor Williams Classified gene: DKC1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.34 | DKC1 | Eleanor Williams Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.34 | DKC1 | Eleanor Williams Gene: dkc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.33 | DKC1 | Eleanor Williams reviewed gene: DKC1: Rating: RED; Mode of pathogenicity: None; Publications: 32554502; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.33 | DKC1 |
Moin Saleem gene: DKC1 was added gene: DKC1 was added to Proteinuric renal disease. Sources: Literature Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: DKC1 were set to 32554502 Phenotypes for gene: DKC1 were set to steroid-resistant 6 nephrotic syndrome; cataracts (prior to steroid treatment); sensorineural deafness; enterocolitis Penetrance for gene: DKC1 were set to unknown Review for gene: DKC1 was set to RED Added comment: six affected males in one pedigree Sources: Literature |
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