Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: ATP2B3

Red List (low evidence)

ATP2B3 (ATPase plasma membrane Ca2+ transporting 3)
EnsemblGeneIds (GRCh38): ENSG00000067842
EnsemblGeneIds (GRCh37): ENSG00000067842
OMIM: 300014, Gene2Phenotype
ATP2B3 is in 5 panels

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Details

Mode of Inheritance
Unknown
Sources
Phenotypes
  • Spinocerebellar ataxia, X-linked 1
OMIM
300014
Clinvar variants
Variants in ATP2B3
Penetrance
None
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

19 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: ATP2B3 was added gene: ATP2B3 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: ATP2B3 was set to Unknown Phenotypes for gene: ATP2B3 were set to Spinocerebellar ataxia, X-linked 1