Adult onset neurodegenerative disorder
Gene: ATP2B3

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

Created: 23 Jul 2019, 3:35 p.m.
Last Modified: 23 Jul 2019, 3:35 p.m.
Panel version: 1.72

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.

Created: 23 Apr 2019, 3:05 p.m.

Panel version: 1.106

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

Created: 23 Apr 2019, 2:42 p.m.

Panel version: 1.6

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:302500

OMIM

300014

Clinvar variants

Variants in ATP2B3

Penetrance

None

Publications

Panels with this gene

History Filter Activity

29 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ATP2B3 were changed from Spinocerebellar ataxia, X-linked 1 to ?Spinocerebellar ataxia, X-linked 1, OMIM:302500

20 Sep 2019, Gel status: 2