Genomics England
GMS Panels
Panels
Genes and Entities

HEATR5B

HEAT repeat containing 5B
PanelMode of inheritanceDetails
1 panel
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
pontocerebellar hypoplasia, MONDO:0020135, intellectual disability, MONDO:0001071, seizures