Genes in panel

Hereditary ataxia - adult onset

Gene: ATP2B3

Amber List (moderate evidence)

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

3 reviews

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

I don't know

3 DM for cerebellar ataxia in HGMD but only 1 report on OMIM - but this report includes functional studies.
Created: 27 Apr 2019, 7:39 p.m.

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Single family in original paper, limited segregation but consistent with x-linked inheritance and functional evidence provided for the single variant. Second missense variant reported in PMID 28807751 with functional evidence, however compound het PMM2 variants reported in same patient - not enough evidence for pathogenicity
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
X-linked spinocerebellar ataxia, 302500

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • Hereditary ataxia v1.148
Phenotypes
  • Spinocerebellar ataxia, X-linked 1
  • X-linked spinocerebellar ataxia, 302500
OMIM
300014
Clinvar variants
Variants in ATP2B3
Penetrance
None
Panels with this gene

History Filter Activity

27 Apr 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: atp2b3 has been classified as Amber List (Moderate Evidence).

27 Apr 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: atp2b3 has been classified as Amber List (Moderate Evidence).

27 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GMS was added to ATP2B3.

15 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes X-linked spinocerebellar ataxia, 302500 for gene: ATP2B3

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ATP2B3.

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to ATP2B3.

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Comment on phenotypes: Implica

15 Dec 2018, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: ATP2B3 was added gene: ATP2B3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,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