Genomics England
GMS Panels
Panels
Genes and Entities
ATP2B3
ATPase plasma membrane Ca2+ transporting 3
OMIM:
300014
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Panel
Mode of inheritance
Details
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Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
- Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 7.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
?Spinocerebellar ataxia, X-linked 1, OMIM:302500