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| Fetal anomalies v8.26 | UNC45A | Ida Ertmanska commented on gene: UNC45A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.25 | UNC45A | Sarah Graham edited their review of gene: UNC45A: Added comment: Biallelic variants associated with osteootohepatoenteric syndrome - bone fragility, hearing loss, cholestasis, and congenital diarrhea. Generally presents in the neonatal period; reviewed as red in 2025. One new report of compound heterozygous variants in an affected infant where late-pregnancy ultrasound showed polyhydramnios and diffuse intestinal dilation (PMID: 41081434).; Changed rating: AMBER; Changed publications to: 41081434, 29429573; Changed phenotypes to: Osteootohepatoenteric syndrome, MIM#619377, Osteootohepatoenteric syndrome, OMIM:619377 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.23 | UNC45A |
Ida Ertmanska Source Expert Review Amber was added to UNC45A. Added phenotypes Osteootohepatoenteric syndrome, OMIM:619377 for gene: UNC45A Publications for gene: UNC45A were updated from 29429573 to 41081434; 29429573 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v5.16 | UNC45A | Achchuthan Shanmugasundram commented on gene: UNC45A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | UNC45A | Sarah Graham reviewed gene: UNC45A: Rating: RED; Mode of pathogenicity: ; Publications: 29429573; Phenotypes: Osteootohepatoenteric syndrome, MIM#619377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | UNC45A |
Achchuthan Shanmugasundram gene: UNC45A was added gene: UNC45A was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: UNC45A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNC45A were set to 29429573 Phenotypes for gene: UNC45A were set to Osteootohepatoenteric syndrome, OMIM:619377 |
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