Ataxia and cerebellar anomalies - narrow panel
Gene: ATP8A2

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

3 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.

Panel Version: 3.30

Created: 5 Feb 2023, 5:18 p.m.
Last Modified: 5 Feb 2023, 5:18 p.m.
Panel version: 3.30

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 21 variants reported in 17 unrelated cases with varying degrees of severity, together with supportive expression and functional studies (PMID 31612321).
Created: 6 Apr 2021, 7:24 p.m. | Last Modified: 6 Apr 2021, 7:24 p.m.

Panel Version: 2.70

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 6 Apr 2021, 5:15 p.m. | Last Modified: 6 Apr 2021, 5:15 p.m.

Panel Version: 2.66

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 6 Apr 2021, 5:15 p.m.
Last Modified: 6 Apr 2021, 5:15 p.m.
Panel version: 2.70

Zornitza Stark (Australian Genomics)

Green List (high evidence)

10 individuals from six unrelated families reported with bi-allelic variants in this gene and neurological phenotypes including intellectual disability and cerebellar ataxia.
Created: 12 Sep 2020, 2 a.m. | Last Modified: 12 Sep 2020, 2 a.m.

Panel Version: 2.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268

Publications

Created: 12 Sep 2020, 2 a.m.
Last Modified: 12 Sep 2020, 2 a.m.
Panel version: 2.12

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

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

5 Feb 2023, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_rating was removed from gene: ATP8A2.

5 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

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

6 Apr 2021, Gel status: 2