Cerebellar hypoplasia

Gene: HEATR5B

Amber List (moderate evidence)

HEATR5B (HEAT repeat containing 5B)
EnsemblGeneIds (GRCh38): ENSG00000008869
EnsemblGeneIds (GRCh37): ENSG00000008869
HEATR5B is in 4 panels

2 reviews

Ivone Leong (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

I don't know

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: Literature
Created: 9 Jul 2021, 5:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
pontocerebellar hypoplasia; intellectual disability; seizures

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • pontocerebellar hypoplasia, MONDO:0020135
  • intellectual disability, MONDO:0001071
  • seizures
Tags
watchlist
Clinvar variants
Variants in HEATR5B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jul 2021, Gel status: 2

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

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