Activity
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10 actions
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| Cerebellar hypoplasia v1.81 | HEATR5B | Arina Puzriakova edited their review of gene: HEATR5B: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar hypoplasia v1.81 | HEATR5B | Arina Puzriakova Classified gene: HEATR5B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar hypoplasia v1.81 | HEATR5B | Arina Puzriakova Added comment: Comment on list classification: Upgrading from Amber to Green on this 100K panel as there are three unrelated cases (2 published, 1 NHS-diagnosed) with pontocerebellar hypoplasia due to biallelic variants in this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar hypoplasia v1.81 | HEATR5B | Arina Puzriakova Gene: heatr5b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar hypoplasia v1.80 | HEATR5B | Arina Puzriakova Tag watchlist was removed from gene: HEATR5B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar hypoplasia v1.80 | HEATR5B | Arina Puzriakova commented on gene: HEATR5B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar hypoplasia v1.72 | HEATR5B | Karen Stals changed review comment from: Four affected children from two families presenting with pontocerebellar hypoplasia with neonatal seizures, severe ID and motor delay. Additional family identified through the R14 WGS service in the Exeter Genomics Laboratory with the causative variant co-segregating in multiple affected family members.; to: Four affected children from two families presenting with pontocerebellar hypoplasia with neonatal seizures, severe ID and motor delay reported by Ghosh et al 2021. Additional family identified through the R14 WGS service in the Exeter Genomics Laboratory with the causative variant co-segregating in multiple affected family members. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar hypoplasia v1.72 | HEATR5B | Karen Stals reviewed gene: HEATR5B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33824466; Phenotypes: Pontocerebellar hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar hypoplasia v1.53 | HEATR5B | Ivone Leong Entity copied from Intellectual disability v3.1188 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar hypoplasia v1.53 | HEATR5B |
Ivone Leong gene: HEATR5B was added gene: HEATR5B was added to Cerebellar hypoplasia. Sources: Expert Review Amber,Literature watchlist tags were added to gene: HEATR5B. Mode of inheritance for gene: HEATR5B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HEATR5B were set to 33824466 Phenotypes for gene: HEATR5B were set to pontocerebellar hypoplasia, MONDO:0020135; intellectual disability, MONDO:0001071; seizures |
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