Activity
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13 actions
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| Mosaic skin disorders - deep sequencing v2.49 | ATP2A2 |
Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: ATP2A2. Tag Q3_23_NHS_review was removed from gene: ATP2A2. |
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| Mosaic skin disorders - deep sequencing v2.49 | ATP2A2 | Achchuthan Shanmugasundram reviewed gene: ATP2A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.48 | ATP2A2 |
Achchuthan Shanmugasundram 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) |
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| Mosaic skin disorders - deep sequencing v2.5 | ATP2A2 |
Arina Puzriakova Tag Q3_23_promote_green tag was added to gene: ATP2A2. Tag Q3_23_NHS_review tag was added to gene: ATP2A2. |
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| Mosaic skin disorders - deep sequencing v2.5 | ATP2A2 | Arina Puzriakova Classified gene: ATP2A2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.5 | ATP2A2 | Arina Puzriakova Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.5 | ATP2A2 | Arina Puzriakova Gene: atp2a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.4 | ATP2A2 | Arina Puzriakova Phenotypes for gene: ATP2A2 were changed from to Segmental Darier disease OMIM:124200; Darier-White disease OMIM:124200; Acrokeratosis verruciformis, OMIM:101900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.3 | ATP2A2 | Arina Puzriakova Publications for gene: ATP2A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.1 | ATP2A2 | Tom Cullup reviewed gene: ATP2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11121153; Phenotypes: Segmental Darier disease (MIM 124200), Darier-White disease (MIM 124200), Acrokeratosis verruciformis (MIM 101900); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v1.5 | ATP2A2 | Zornitza Stark reviewed gene: ATP2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30085326, 26154588, 21720150, 12890216; Phenotypes: Darier disease, MIM# 124200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.13 | ATP2A2 | Catherine Snow reviewed gene: ATP2A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.12 | ATP2A2 |
Catherine Snow 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 |
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