Mosaic skin disorders - deep sequencing
Gene: ATP2A2Comment 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
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
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
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
Tag Q3_23_promote_green tag was added to gene: ATP2A2. Tag Q3_23_NHS_review tag was added to gene: ATP2A2.
Gene: atp2a2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: ATP2A2 were changed from to Segmental Darier disease OMIM:124200; Darier-White disease OMIM:124200; Acrokeratosis verruciformis, OMIM:101900
Publications for gene: ATP2A2 were set to
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