Activity
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8 actions
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| Fetal anomalies v8.30 | UNC80 | Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: UNC80. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.26 | UNC80 | Ida Ertmanska commented on gene: UNC80 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.25 | UNC80 | Sunayna Best reviewed gene: UNC80: Rating: GREEN; Mode of pathogenicity: ; Publications: 40801661, 41458659, 40048676; Phenotypes: hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MONDO:0014777, Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, OMIM:616801; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.23 | UNC80 |
Ida Ertmanska Source Expert Review Amber was added to UNC80. Source NHS GMS was added to UNC80. Added phenotypes hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MONDO:0014777; Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, OMIM:616801 for gene: UNC80 Publications for gene: UNC80 were updated from to 40801661; 41458659; 40048676 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v0.165 | UNC80 |
Rebecca Foulger Source Expert Review Red was added to UNC80. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.161 | UNC80 | Rebecca Foulger edited their review of gene: UNC80: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UNC80 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | UNC80 | Rebecca Foulger reviewed gene: UNC80: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | UNC80 |
Rebecca Foulger gene: UNC80 was added gene: UNC80 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: UNC80 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UNC80 were set to Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability |
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