Activity
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9 actions
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| Cholestasis v3.14 | PSKH1 | Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PSKH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v3.14 | PSKH1 | Achchuthan Shanmugasundram commented on gene: PSKH1: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v3.13 | PSKH1 |
Achchuthan Shanmugasundram Source NHS GMS was added to PSKH1. Source Expert Review Green was added to PSKH1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Cholestasis v3.8 | PSKH1 | Arina Puzriakova Phenotypes for gene: PSKH1 were changed from hepatorenal syndrome, MONDO:0001382 to Cholestasis, progressive familial intrahepatic, 13, OMIM:620962 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v3.6 | PSKH1 | Achchuthan Shanmugasundram Classified gene: PSKH1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v3.6 | PSKH1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (four unrelated cases and functional studies) available for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v3.6 | PSKH1 | Achchuthan Shanmugasundram Gene: pskh1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v3.5 | PSKH1 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PSKH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v3.5 | PSKH1 |
Achchuthan Shanmugasundram gene: PSKH1 was added gene: PSKH1 was added to Cholestasis. Sources: Literature Mode of inheritance for gene: PSKH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSKH1 were set to 39132680 Phenotypes for gene: PSKH1 were set to hepatorenal syndrome, MONDO:0001382 Review for gene: PSKH1 was set to GREEN Added comment: PMID:39132680 reported the identification of homozygous PSKH1 variants in four consanguineous families from a cohort of 279 families with intrahepatic cholestasis. Two of the four families (families 1 and 2) had the same homozygous founder variant (p.Arg121Trp), while different homozygous variants were reported in the other two families (family 3 - p.Ile126Val & family 4 - p.Arg183Cys). The clinical presentations of the cases are as follows: Family 1 - One patient died at 10 months of age with cholestasis/ liver impairment and kidney impairment. Family 2 - Three cousins with cholestasis (two with liver failure needing transplant) and kidney features (two with kidney failure, 1 with renal echogenicity). Family 3 - Two siblings with hepatic fibrosis (one with unilateral renal agenesis). Family 4 - Two siblings with unexplained liver cirrhosis (one needing transplant) but normal kidney function. 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. This gene has not yet been associated with any relevant phenotypes in OMIM or in Gene2Phenotype. Sources: Literature |
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