Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: ATP8A2

Green List (high evidence)

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

5 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association.
Created: 21 Feb 2019, 12:19 p.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
Created: 21 Feb 2019, 12:16 p.m.

Konstantinos Varvagiannis (Other)

Green List (high evidence)

More than 20 individuals from several (>10) families with biallelic ATP8A2 variants reported. Intellectual disability was a universal feature. At least 12 different mutations (of all types incl. missense, stopgain, frameshift, splice-site variants) as well as intragenic deletions have been reported. [PMID: 22892528, 27679995, 30012219, 29531481, etc.]

ATP8A2 is included in gene panels for intellectual disability offered by different diagnostic laboratories.

As a result this gene can be considered for upgrade to green.
Created: 23 Nov 2018, 4:25 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

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

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Associated with phenotype in OMIM and as a possible G2P. At least 1 variants reported in 3 affected members of a consanguineous Turkish family.
Created: 15 Dec 2017, 9:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 615268
  • intellectual disability
OMIM
605870
Clinvar variants
Variants in ATP8A2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: atp8a2 has been classified as Green List (High Evidence).

21 Feb 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ATP8A2 were changed from ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 615268 to ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 615268; intellectual disability

21 Feb 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ATP8A2 were changed from ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 615268 to ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 615268

21 Feb 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ATP8A2 were set to 22892528

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ATP8A2 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ATP8A2 was added to Intellectual disabilitypanel. Sources: Expert Review Red