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| 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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