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| Mendeliome v1.4722 | DROSHA | Bryony Thompson Phenotypes for gene: DROSHA were changed from Neurodevelopmental disorder (MONDO#0700092), DROSHA-related to Neurodevelopmental disorder, MONDO:0700092; hereditary hemorrhagic telangiectasia MONDO:0019180; idiopathic spontaneous coronary artery dissection MONDO:0007385 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4721 | DROSHA | Bryony Thompson Publications for gene: DROSHA were set to 35405010 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4720 | DROSHA | Bryony Thompson reviewed gene: DROSHA: Rating: AMBER; Mode of pathogenicity: None; Publications: 39654947, 35405010, 29339534; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, hereditary hemorrhagic telangiectasia MONDO:0019180, idiopathic spontaneous coronary artery dissection MONDO:0007385; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2372 | DROSHA | Zornitza Stark Tag non-coding gene tag was added to gene: DROSHA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13786 | DROSHA | Zornitza Stark Marked gene: DROSHA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13786 | DROSHA | Zornitza Stark Gene: drosha has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13786 | DROSHA | Zornitza Stark Classified gene: DROSHA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13786 | DROSHA | Zornitza Stark Gene: drosha has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13784 | DROSHA |
Lucy Spencer gene: DROSHA was added gene: DROSHA was added to Mendeliome. Sources: Literature Mode of inheritance for gene: DROSHA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DROSHA were set to 35405010 Phenotypes for gene: DROSHA were set to Neurodevelopmental disorder (MONDO#0700092), DROSHA-related Review for gene: DROSHA was set to AMBER Added comment: 2 individuals with profound intellectual disability, epilepsy, white matter atrophy, microcephaly, and dysmorphic features, who carry damaging de novo heterozygous variants in DROSHA. Both variants are missense, absent from gnomad. Both individuals noted to have Rett-like features. Functional studies in patient fibroblasts showed one of the missense altered the expression of mature miRNA. Fruit fly models with homozygous LOF variants die during larval stages. introduction of the missense seen in the patients was able to partially rescue this phenotype suggesting LOF is not the mechanism. Sources: Literature |
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