Proteinuric renal disease
Gene: DKC1
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, 5:43 p.m. | Last Modified: 13 Jan 2021, 5:43 p.m.
Panel Version: 2.34
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.Created: 13 Jan 2021, 5:40 p.m. | Last Modified: 13 Jan 2021, 5:50 p.m.
Panel Version: 2.34
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications
six affected males in one pedigree
Sources: LiteratureCreated: 18 Nov 2020, 11:01 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
steroid-resistant 6 nephrotic syndrome; cataracts (prior to steroid treatment); sensorineural deafness; enterocolitis
Publications
Gene: dkc1 has been classified as Red List (Low Evidence).
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