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| Renal Ciliopathies and Nephronophthisis v1.24 | PSKH1 |
Chirag Patel gene: PSKH1 was added gene: PSKH1 was added to Renal Ciliopathies and Nephronophthisis. Sources: Literature Mode of inheritance for gene: PSKH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSKH1 were set to PMID: 39132680 Phenotypes for gene: PSKH1 were set to Hepatorenal syndrome, MONDO:0001382 Review for gene: PSKH1 was set to GREEN gene: PSKH1 was marked as current diagnostic Added comment: 4 consanguineous families (out of 279 families) with intrahepatic cholestasis: -1 patient died at 10mths with cholestasis/liver impairment and kidney impairment -3 cousins with cholestasis (2 with liver failure needing transplant) and kidney features (2 with kidney failure, 1 with renal echogenicity) -2 siblings with hepatic fibrosis (1 with unilateral renal agenesis) -2 siblings with unexplained liver cirrhosis (1 needing transplant) but normal kidney function WES identified 3 different homozygous variants in PSKH1 (Arg121Trp, Ile126Val, Arg183Cys). Patient fibroblasts displayed abnormal cilia that are long and show abnormal transport. A homozygous Pskh1 mutant mouse faithfully recapitulated the human phenotype and displayed abnormally long cilia. The phenotype could be rationalized by the loss of catalytic activity observed for each recombinant PSKH1 variant using in vitro kinase assays. Human PSKH1 is a poorly understood gene that may play important role in intracellular trafficking, is sensitive to intracellular Ca2+ concentration, and is localized to centrosomes, suggesting a link to cystogenesis. Sources: Literature |
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| Renal Ciliopathies and Nephronophthisis v0.265 | MKKS | Zornitza Stark Phenotypes for gene: MKKS were changed from to Bardet-Biedl syndrome 6 (MIM#605231); McKusick-Kaufman syndrome, MIM# 236700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v0.262 | MKKS | Zornitza Stark reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: None; Publications: 10802661; Phenotypes: McKusick-Kaufman syndrome, MIM# 236700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v0.31 | ICK | Zornitza Stark Marked gene: ICK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v0.31 | ICK | Zornitza Stark Gene: ick has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v0.31 | ICK |
Zornitza Stark gene: ICK was added gene: ICK was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert list Mode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ICK were set to 19185282; 27069622 Phenotypes for gene: ICK were set to Endocrine-cerebroosteodysplasia, MIM# 612651 Review for gene: ICK was set to RED Added comment: 6 affected individuals from 2 Amish families reported originally (founder effect); another Turkish family reported since. However, renal cysts only reported in the Amish families, emerging ciliopathy gene, renal phenotype remains to be elucidated. Sources: Expert list |
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