Hereditary ataxia with onset in adulthood
Gene: ATP8A2

ATP8A2 (ATPase phospholipid transporting 8A2)
EnsemblGeneIds (GRCh38): ENSG00000132932
EnsemblGeneIds (GRCh37): ENSG00000132932
OMIM: 605870, Gene2Phenotype
ATP8A2 is in 8 panels

4 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 5:26 p.m. | Last Modified: 9 Mar 2022, 5:26 p.m.

Panel Version: 2.144

Zornitza Stark has commented this gene is responsible for a congenital condition and not for an adult onset phenotype. Table 1 in PMID 31612321 provides a review of the reported variants and their associated clinical features, although cases are seen after adolescence, where data is available the onset is before 5 years of age. However, the report of a 27 year old male, without age of onset data (PMID: 22892528), provides some justification for this gene being green on this adult onset panel.

Created: 19 May 2021, 11:02 a.m. | Last Modified: 15 Feb 2022, 3:25 p.m.

Panel Version: 2.139

Created: 19 May 2021, 11:02 a.m.
Last Modified: 15 Feb 2022, 3:25 p.m.
Panel version: 2.144

Zornitza Stark (Australian Genomics)

Red List (low evidence)

This is a congenital disorder.
Created: 12 Sep 2020, 2:01 a.m. | Last Modified: 12 Sep 2020, 2:01 a.m.

Panel Version: 2.9

Phenotypes
Cerebellar ataxia, mental retardation and dysequilibirum syndrome 4

Created: 12 Sep 2020, 2:01 a.m.
Last Modified: 12 Sep 2020, 2:01 a.m.
Panel version: 2.9

Louise Daugherty (Genomics England Curator)

I don't know

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.

Created: 15 Apr 2019, 10:21 a.m.

Panel version: 1.8

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Looks like three families across the published papers - caution advised as no functional evidence produced
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar ataxia, mental retardation and dysequilibirum syndrome 4

Variants in this GENE are reported as part of current diagnostic practice

Created: 15 Apr 2019, 10:06 a.m.

Panel version: 1.7

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
NHS GMS
Wessex and West Midlands GLH
Hereditary ataxia v1.148

Phenotypes

?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 OMIM:615268
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 MONDO:0014104

OMIM

605870

Clinvar variants

Variants in ATP8A2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

9 Mar 2022, Gel status: 2

Removed Tag, Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_phenotype was removed from gene: ATP8A2. Tag Q2_21_expert_review was removed from gene: ATP8A2.

9 Mar 2022, Gel status: 2

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Amber was added to ATP8A2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

19 May 2021, Gel status: 3