| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Ciliopathies v1.62 | PSKH1 | Zornitza Stark Marked gene: PSKH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v1.62 | PSKH1 | Zornitza Stark Gene: pskh1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v1.62 | PSKH1 | Zornitza Stark Phenotypes for gene: PSKH1 were changed from Hepatorenal syndrome, MONDO:0001382 to Cholestasis, progressive familial intrahepatic, 13, MIM# 620962 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v1.58 | PSKH1 | Chirag Patel Classified gene: PSKH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v1.58 | PSKH1 | Chirag Patel Gene: pskh1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v1.57 | PSKH1 |
Chirag Patel gene: PSKH1 was added gene: PSKH1 was added to Ciliopathies. 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||