HEATR5B

HEAT repeat containing 5B
Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green HEATR5B in Ataxia and cerebellar anomalies - childhood onset Level 2: Neurology Version 9.35 Latest signed off version: v9.22 (12 Aug 2026) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies, childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes pontocerebellar hypoplasia, MONDO:0020135 intellectual disability, MONDO:0001071 seizures Tags gene-checked
Green HEATR5B in Cerebellar hypoplasia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.87	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes pontocerebellar hypoplasia, MONDO:0020135 intellectual disability, MONDO:0001071 seizures
Red HEATR5B in DDG2P Version 8.2 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes HEATR5B-related pontocerebellar hypoplasia Tags gene-checked
Amber HEATR5B in Early onset or syndromic epilepsy Level 2: Neurology Version 9.84 Latest signed off version: v9.56 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Phenotypes pontocerebellar hypoplasia, MONDO:0020135 intellectual disability, MONDO:0001071 seizures Tags gene-checked watchlist
Amber HEATR5B in Intellectual disability Level 2: Developmental disorders Version 11.31 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes pontocerebellar hypoplasia, MONDO:0020135 intellectual disability, MONDO:0001071 seizures Tags gene-checked watchlist