Genes in panel

Neurodegenerative disorders - 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

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

Onset at birth
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72

Mode of inheritance
Unknown

Phenotypes
Spinocerebellar ataxia, X-linked 1

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Created: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating from Anthony Dallosso (Bristol Genetics Laboratory), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 3:05 p.m.

Anthony Dallosso (Bristol Genetics Laboratory)

I don't know

Family of 2 affected males with ataxia & 2 unaffected female carrier (p.Gly1107Asp, 22912398); 3 generational family with same variant as reported in 22912398: 3 affected males & 1 unaffected carrier female (p.Gly1107Asp, 27653636); Functional consequence of p.Gly1107Asp (27632770 & 22912398). ?suggests Founder effect
Created: 23 Apr 2019, 2:42 p.m.

Mode of inheritance
Unknown

Phenotypes
Spinocerebellar ataxia, X-linked 1

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Amber
  • Yorkshire and North East GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Spinocerebellar ataxia, X-linked 1
OMIM
300014
Clinvar variants
Variants in ATP2B3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Sep 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to ATP2B3. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

23 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ATP2B3.

8 Jul 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ATP2B3 were set to

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ATP2B3.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to ATP2B3.

25 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Gene awaiting curator evaluati

18 Dec 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: ATP2B3 was added gene: ATP2B3 was added to Neurodegenerative disorders - adult onset. 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