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Mosaic skin disorders - deep sequencing

Gene: ATP2A2

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

5 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 6 Dec 2024, 11:18 a.m. | Last Modified: 6 Dec 2024, 11:18 a.m.
Panel Version: 2.49

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

Created: 6 Dec 2024, 11:18 a.m.
Last Modified: 6 Dec 2024, 11:18 a.m.
Panel version: 2.49

Arina Puzriakova (Genomics England Curator)

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. At least 6 unrelated cases of mosaic Darier disease reported in literature. ATP2A2 is associated with a relevant phenotype in OMIM that also mentions somatic mosaic disease.
Created: 25 Jul 2023, 1:38 p.m. | Last Modified: 25 Jul 2023, 1:38 p.m.
Panel Version: 2.5
Created: 25 Jul 2023, 1:38 p.m.
Last Modified: 25 Jul 2023, 1:38 p.m.
Panel version: 2.5

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Gene is well established as causative of Darier-White disease and acrokeratosis verruciformis, multiple reports of somatic mosaicism - see PMID 11121153 (+ other publications as below). Gene is not currently green on any panel, so important to promote to allow diagnostic testing.
Created: 3 May 2023, 12:44 p.m. | Last Modified: 3 May 2023, 12:44 p.m.
Panel Version: 2.1

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Segmental Darier disease (MIM 124200); Darier-White disease (MIM 124200); Acrokeratosis verruciformis (MIM 101900)

Publications

Created: 3 May 2023, 12:44 p.m.
Last Modified: 3 May 2023, 12:44 p.m.
Panel version: 2.1

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Multiple reports of somatic mosaicism.
Created: 18 Feb 2021, 8:04 a.m. | Last Modified: 18 Feb 2021, 8:04 a.m.
Panel Version: 1.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Darier disease, MIM# 124200

Publications

Created: 18 Feb 2021, 8:04 a.m.
Last Modified: 18 Feb 2021, 8:04 a.m.
Panel version: 1.5

Catherine Snow (Genomics England)

I don't know

This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:ATP2A2; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.13
Created: 9 Sep 2019, 3:38 p.m.
Last Modified: 9 Sep 2019, 3:38 p.m.
Panel version: 0.13

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Segmental Darier disease OMIM:124200
  • Darier-White disease OMIM:124200
  • Acrokeratosis verruciformis, OMIM:101900
OMIM
108740
Clinvar variants
Variants in ATP2A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_23_promote_green was removed from gene: ATP2A2. Tag Q3_23_NHS_review was removed from gene: ATP2A2.

6 Dec 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to ATP2A2. Source NHS GMS was added to ATP2A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

25 Jul 2023, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_23_promote_green tag was added to gene: ATP2A2. Tag Q3_23_NHS_review tag was added to gene: ATP2A2.

25 Jul 2023, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: atp2a2 has been classified as Amber List (Moderate Evidence).

25 Jul 2023, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ATP2A2 were changed from to Segmental Darier disease OMIM:124200; Darier-White disease OMIM:124200; Acrokeratosis verruciformis, OMIM:101900

25 Jul 2023, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: ATP2A2 were set to

2 Sep 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

gene: ATP2A2 was added gene: ATP2A2 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Amber Mode of inheritance for gene: ATP2A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown