Adult onset neurodegenerative disorder
Gene: ATP8A2
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
BIALLELIC, autosomal or pseudoautosomal
Comment on list classification: Prior to GLH sign off for this panel, ATP8A2 was discussed further by the specialist test group. It was agreed by all GLHs (Wessex and West Midlands GLH, Yorkshire and North East GLH, London North GLH) to downgrade this gene from Amber to Red. It was noted that it is assoicated to cerebellar ataxia, MR and dysequilibrium syndrome type 4. Guissart et al 2019 J Neuro PMID: 31612321 - plus review of 26 previously reported cases. All have onset in childhood – so recommended RedCreated: 28 Nov 2019, 1:48 p.m. | Last Modified: 28 Nov 2019, 1:48 p.m.
Panel Version: 1.113
Comment on list classification: Prior to GLH sign off for this panel, ATP8A2 was discussed further by the specialist test group. It was agreed by all GLHs (Wessex and West Midlands GLH, Yorkshire and North East GLH, London North GLH) to downgrade this gene from Amber to Red. ATP8A2 Cerebellar ataxia, MR and dysequilibrium syndrome type 4. Guissart et al 2019 J Neuro PMID: 31612321 - plus review of 26 previously reported cases. All have onset in childhood- redCreated: 28 Nov 2019, 1:32 p.m. | Last Modified: 28 Nov 2019, 1:37 p.m.
Panel Version: 1.111
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.
No access to full-text (27679995, 28454995Created: 23 Apr 2019, 2:42 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: atp8a2 has been classified as Red List (Low Evidence).
Publications for gene: ATP8A2 were set to 22892528; 27679995; 2845499
Gene: atp8a2 has been classified as Red List (Low Evidence).
Source Expert Review Amber was added to ATP8A2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Source Yorkshire and North East GLH was added to ATP8A2.
Publications for gene: ATP8A2 were set to PMID: 22892528
Source NHS GMS was added to ATP8A2.
Source South West GLH was added to ATP8A2.
Rebecca Foulger: Gene awaiting curator evaluati
gene: ATP8A2 was added gene: ATP8A2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ATP8A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP8A2 were set to PMID: 22892528