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DDG2P

Gene: ATP8A2

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for ATP8A2-related cerebellar ataxia, intellectual developmental disorder, and dysequilibrium syndrome are limited, biallelic_autosomal and undetermined (PMIDs: 16075202, 22892528). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01367.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease CEREBELLAR ATAXIA, INTELLECTUAL DEVELOPMENTAL DISORDER, AND DYSEQUILIBRIUM SYNDROME 4, OMIM:615268 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 16075202;22892528).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ATP8A2-related cerebellar ataxia, intellectual developmental disorder, and dysequilibrium syndrome; OMIM:615268.0; CEREBELLAR ATAXIA, INTELLECTUAL DEVELOPMENTAL DISORDER, AND DYSEQUILIBRIUM SYNDROME 4, OMIM:615268; MONDO:0014104

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:29 a.m.
Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 615268
OMIM
605870
Clinvar variants
Variants in ATP8A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: ATP8A2 was changed from Other to None

4 Oct 2023, Gel status: 1

Set mode of pathogenicity, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene ATP8A2 was changed from Other - please provide details in the comments to Other Publications for gene: ATP8A2 were updated from 22892528 to 16075202; 22892528

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

gene: ATP8A2 was added gene: ATP8A2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ATP8A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP8A2 were set to 22892528 Phenotypes for gene: ATP8A2 were set to CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 615268 Mode of pathogenicity for gene: ATP8A2 was set to Other - please provide details in the comments