Cerebellar hypoplasiaGene: HEATR5B
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
Created: 9 Jul 2021, 5:12 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
pontocerebellar hypoplasia; intellectual disability; seizures
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