1. Panels
  2. Hereditary ataxia
  3. ATP2B3

Hereditary ataxia

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

2 reviews

emma baple (Genomics England Curator)

Comment when marking as ready: Very limited evidence, single family and missense.
Created: 11 Jul 2016, 4:18 a.m.
Created: 11 Jul 2016, 4:18 a.m.

Panel version: 0.75

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Red List (low evidence)

Looks only single family so far, but functional evidence for variant
Created: 24 Nov 2015, 4:57 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Spinocerebellar ataxia, X-linked 1

Created: 24 Nov 2015, 4:57 p.m.

Panel version: 0

Details

Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinocerebellar ataxia, X-linked 1
OMIM
300014
Clinvar variants
Variants in ATP2B3
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

6 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ATP2B3 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen