| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Osteogenesis imperfecta v2.43 | UNC45A |
Eleanor Williams Tag Q3_21_rating was removed from gene: UNC45A. Tag Q3_21_NHS_review was removed from gene: UNC45A. |
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| Osteogenesis imperfecta v2.43 | UNC45A | Eleanor Williams commented on gene: UNC45A: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.42 | UNC45A |
Eleanor Williams Source Expert Review Green was added to UNC45A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Osteogenesis imperfecta v2.21 | UNC45A | Eleanor Williams Tag Q3_21_NHS_review tag was added to gene: UNC45A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.21 | UNC45A | Eleanor Williams Phenotypes for gene: UNC45A were changed from cholestasis; congenital diarrhea; impaired hearing; bone fragility to Osteootohepatoenteric syndrome, OMIM:619377 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.20 | UNC45A | Eleanor Williams Classified gene: UNC45A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.20 | UNC45A | Eleanor Williams Gene: unc45a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.19 | UNC45A | Eleanor Williams Classified gene: UNC45A as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.19 | UNC45A | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey to amber, with recommendation for green rating following GMS review. 2 unrelated families with bone fragility and biallelic variants in this gene reported in the literature, plus another case reported by an NHS laboratory. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.19 | UNC45A | Eleanor Williams Gene: unc45a has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.18 | UNC45A | Eleanor Williams Tag Q3_21_rating tag was added to gene: UNC45A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.18 | UNC45A | Eleanor Williams reviewed gene: UNC45A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29429573; Phenotypes: Osteootohepatoenteric syndrome, OMIM:619377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.13 | UNC45A | Julia Baptista reviewed gene: UNC45A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29429573; Phenotypes: cholestasis, diarrhea, bone fragility; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v2.6 | UNC45A |
Zornitza Stark gene: UNC45A was added gene: UNC45A was added to Osteogenesis imperfecta. Sources: Expert list 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 cholestasis; congenital diarrhea; impaired hearing; bone fragility Review for gene: UNC45A was set to AMBER Added comment: Bone fragility is present in 3 cases from two families and is not present in another case with biallelic variants. In vitro functional assays suggest loss-of-function mechanism of disease. In vivo zebrafish assays demonstrate defects in gut development and bone fragility doesn't appear to be assessed. Emerging gene-disease association, uncertain if bone fragility is a consistent/prominent feature of the phenotype yet. Sources: Expert list |
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