Cerebellar hypoplasia
Gene: HEATR5B
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.Created: 26 Apr 2023, 11:56 p.m. | Last Modified: 27 Apr 2023, 12:01 a.m.
Panel Version: 1.72
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.Created: 14 Jul 2021, 1:40 p.m. | Last Modified: 14 Jul 2021, 1:40 p.m.
Panel Version: 3.1188
Four affected children from two families presenting with pontocerebellar hypoplasiawith neonatal seizures, severe ID and motor delay. Two homozygous splice variants were reported (c.5051–1G>A and c.5050+4A>G) in intron 31 of HEATR5B gene. Aberrant splicing was found in patient fibroblasts, which correlated with reduced levels of HEATR5B protein. Homozygous knockout mice were not viable
Sources: LiteratureCreated: 9 Jul 2021, 5:12 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
pontocerebellar hypoplasia; intellectual disability; seizures
Publications
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