Activity
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| Renal ciliopathies v3.15 | CYS1 | Arina Puzriakova Classified gene: CYS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v3.15 | CYS1 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). Not yet associated with any phenotype in OMIM or G2P. One family with biallelic pathogenic variants and having severe childhood polycystic kidney disease and congenital hepatic fibrosis (PMID: 34521872). Cystin (product of CYS1) is expressed in primary apical cilia of renal ductal epithelial cells and the knockout mouse model phenocopies human polycystic kidney disease, providing strong support for this association (PMID: 11854326) Overall sufficient evidence for amber rating, but additional cases required before promotion to green (added watchlist tag). |
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| Renal ciliopathies v3.15 | CYS1 | Arina Puzriakova Gene: cys1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v3.14 | CYS1 | Arina Puzriakova Tag watchlist tag was added to gene: CYS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v3.6 | GLIS2 |
Achchuthan Shanmugasundram changed review comment from: PMID:17618285 reported the identification of a homozygous splice site GLIS2 variant in three members of a consanguineous Canadian Oji-Cree family and they presented with nephronophthisis. All developed end-stage kidney disease by age 8 years and underwent renal transplantation. Experimental studies in Glis2 mutant mouse model showed severe renal atrophy and fibrosis starting at 8 weeks of age. Differential gene expression studies on Glis2 mutant kidneys demonstrate that genes promoting epithelial-to-mesenchymal transition and fibrosis are upregulated in the absence of Glis2. PMID:23559409 reported the identification of a homozygous GLIS2 variant (p.Cys175Arg) in a patient of Turkish descent that was ascertained from a larger cohort of 1,056 individuals with nephronophthisis-related disorders who underwent genetic analysis. This patient had end stage renal disease at 15 years of age. PMID:26374130 provided functional evidence for the reported C175R variant, which showed that affects both localization and function of GLIS2. PMID:31676329 reported the identification of a novel homozygous in-frame deletion (p.H188_Y192del) of GLIS2 in a female from a consanguineous family. She presented at 9 years with echogenic kidneys with loss of cortico-medullary differentiation and progressive chronic kidney disease reaching kidney failure by 10 years of age.; to: PMID:17618285 reported the identification of a homozygous splice site GLIS2 variant in three members of a consanguineous Canadian Oji-Cree family and they presented with nephronophthisis. All developed end-stage kidney disease by age 8 years and underwent renal transplantation. Experimental studies in Glis2 mutant mouse model showed severe renal atrophy and fibrosis starting at 8 weeks of age. Differential gene expression studies on Glis2 mutant kidneys demonstrate that genes promoting epithelial-to-mesenchymal transition and fibrosis are upregulated in the absence of Glis2. PMID:23559409 reported the identification of a homozygous GLIS2 variant (p.Cys175Arg) in a patient of Turkish descent that was ascertained from a larger cohort of 1,056 individuals with nephronophthisis-related disorders who underwent genetic analysis. This patient had end stage renal disease at 15 years of age. PMID:26374130 provided functional evidence for the reported C175R variant, which showed that affects both localization and function of GLIS2. PMID:31676329 reported the identification of a novel homozygous in-frame deletion (p.H188_Y192del) of GLIS2 in a female from a consanguineous family. She presented at 9 years of age with echogenic kidneys with loss of cortico-medullary differentiation and progressive chronic kidney disease reaching kidney failure by 10 years of age. |
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| Renal ciliopathies v1.49 | CYS1 |
Zornitza Stark gene: CYS1 was added gene: CYS1 was added to Renal ciliopathies. Sources: Literature Mode of inheritance for gene: CYS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYS1 were set to 34521872 Phenotypes for gene: CYS1 were set to Polycystic kidney disease, MONDO:0020642 Review for gene: CYS1 was set to AMBER Added comment: Single family reported. However, extensive experimental data, including mouse model. Sources: Literature |
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