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Intellectual disability

Gene: ATP2A2

Red List (low evidence)

ATP2A2 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2)
EnsemblGeneIds (GRCh38): ENSG00000174437
EnsemblGeneIds (GRCh37): ENSG00000174437
OMIM: 108740, Gene2Phenotype
ATP2A2 is in 4 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Associated with phenotype in OMIM, not in G2P. At least 11 variants reported in Darier disease 124200, although psychiatric symptoms are frequent, congnitive impairment was only reported in 5/100 unrelated cases (not statistically significant)(PMID 20456342)
Created: 15 Dec 2017, 9:38 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Darier disease 124200
OMIM
108740
Clinvar variants
Variants in ATP2A2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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.

5 Jan 2018, Gel status: 1

Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ATP2A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene ATP2A2 was set to ['19250991', ' 20456342 ']

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: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ATP2A2 was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ATP2A2 was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen