DDG2P
Gene: HEATR5B

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for HEATR5B-related pontocerebellar hypoplasia are limited, biallelic_autosomal and loss of function (PMIDs: 33824466, 38622473). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03785.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
HEATR5B-related pontocerebellar hypoplasia

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Red

Phenotypes

HEATR5B-related pontocerebellar hypoplasia

Clinvar variants

Variants in HEATR5B

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: HEATR5B was added gene: HEATR5B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: HEATR5B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HEATR5B were set to 38622473; 33824466 Phenotypes for gene: HEATR5B were set to HEATR5B-related pontocerebellar hypoplasia

DDG2P Gene: HEATR5B