Adult onset neurodegenerative disorder
Gene: ATP2B3
Onset at birthCreated: 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
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 AmberCreated: 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.
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 effectCreated: 23 Apr 2019, 2:42 p.m.
Mode of inheritance
Unknown
Phenotypes
Spinocerebellar ataxia, X-linked 1
Phenotypes for gene: ATP2B3 were changed from Spinocerebellar ataxia, X-linked 1 to ?Spinocerebellar ataxia, X-linked 1, OMIM:302500
Source Expert Review Amber was added to ATP2B3. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Source Yorkshire and North East GLH was added to ATP2B3.
Publications for gene: ATP2B3 were set to
Source NHS GMS was added to ATP2B3.
Source South West GLH was added to ATP2B3.
Rebecca Foulger: Gene awaiting curator evaluati
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