Genomics England
GMS Panels
Panels
Genes and Entities

ATP2B3

ATPase plasma membrane Ca2+ transporting 3
OMIM: 300014
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 6.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
?Spinocerebellar ataxia, X-linked 1, OMIM:302500