Genomics England
GMS Panels
Panels
Genes and Entities

THG1L

tRNA-histidine guanylyltransferase 1 like
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 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive 28, OMIM:618800, MONDO:0032923