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Epidermolysis bullosa and congenital skin fragility v2.12 ATP2A2 Ida Ertmanska edited their review of gene: ATP2A2: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Epidermolysis bullosa and congenital skin fragility v2.12 ATP2A2 Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: ATP2A2.
Tag Q1_26_NHS_review tag was added to gene: ATP2A2.
Epidermolysis bullosa and congenital skin fragility v2.12 ATP2A2 Ida Ertmanska Mode of inheritance for gene: ATP2A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Epidermolysis bullosa and congenital skin fragility v2.11 ATP2A2 Ida Ertmanska Classified gene: ATP2A2 as Amber List (moderate evidence)
Epidermolysis bullosa and congenital skin fragility v2.11 ATP2A2 Ida Ertmanska Gene: atp2a2 has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa and congenital skin fragility v2.10 ATP2A2 Ida Ertmanska changed review comment from: Comment on list classification: There are numerous patients reported in literature with monoallelic LoF germline variants in ATP2A2 causing Darier disease. Darier disease is characterized by warty papules and plaques in seborrheic areas, palmoplantar pits, and distinctive nail abnormalities (PMID: 10080178). The age of onset is usually in childhood/adolescence. Due to the age of onset, this gene does not fit into the scope of this panel and should be rated Red.; to: Comment on list classification: There are numerous patients reported in literature with monoallelic LoF germline variants in ATP2A2 causing Darier disease. Darier disease is characterized by warty papules and plaques in seborrheic areas, palmoplantar pits, and distinctive nail abnormalities (PMID: 10080178). The age of onset is usually in adolescence. Based on the available evidence, this gene should be updated to Green on Epidermolysis bullosa and congenital skin fragility. As per internal communication with Veronica Kinsler, this is the closest Dermatology panel fit at this time.
Epidermolysis bullosa and congenital skin fragility v2.10 ATP2A2 Ida Ertmanska edited their review of gene: ATP2A2: Changed rating: GREEN
Epidermolysis bullosa and congenital skin fragility v2.10 ATP2A2 Ida Ertmanska Publications for gene: ATP2A2 were set to
Epidermolysis bullosa and congenital skin fragility v2.9 ATP2A2 Ida Ertmanska Phenotypes for gene: ATP2A2 were changed from Darier-White disease, OMIM:124200 to Darier disease, OMIM:124200; Acrokeratosis verruciformis, OMIM:101900; Darier disease, MONDO:0007417; acrokeratosis verruciformis, MONDO:0007048
Epidermolysis bullosa and congenital skin fragility v2.8 ATP2A2 Ida Ertmanska Classified gene: ATP2A2 as Red List (low evidence)
Epidermolysis bullosa and congenital skin fragility v2.8 ATP2A2 Ida Ertmanska Gene: atp2a2 has been classified as Red List (Low Evidence).
Epidermolysis bullosa and congenital skin fragility v2.7 ATP2A2 Ida Ertmanska changed review comment from: Comment on list classification: There are numerous patients reported in literature with monoallelic LoF germline variants in ATP2A2 causing Darier disease. Darier disease is characterized by warty papules and plaques in seborrheic areas, palmoplantar pits, and distinctive nail abnormalities (PMID: 10080178). The age of onset is usually in childhood/adolescence. Due to the age of onset, this gene does not fit into the scope of this panel.; to: Comment on list classification: There are numerous patients reported in literature with monoallelic LoF germline variants in ATP2A2 causing Darier disease. Darier disease is characterized by warty papules and plaques in seborrheic areas, palmoplantar pits, and distinctive nail abnormalities (PMID: 10080178). The age of onset is usually in childhood/adolescence. Due to the age of onset, this gene does not fit into the scope of this panel and should be rated Red.
Epidermolysis bullosa and congenital skin fragility v2.7 ATP2A2 Ida Ertmanska changed review comment from: PMID: 38536168 Atzmony et al., 2024
9 patients with Darier disease (DD) from (presumed) unrelated families with heterozygous pathogenic germline LoF variants in ATP2A2. 8/9 patients had family history of DD. 8/9 individuals had classic disease distribution with hyperkeratotic papules and plaques over seborrheic areas and v-shaped notching of the nails. One patient had comedonal DD, manifested over forehead, cheeks and trunk.
Variants detected in ATP2A2 - none of which are present in gnomAD v4.1.0.:
c.1000C>T, p.Arg334X
c.1582C>T, p.Arg528X
c.2256_2256Dup, p.(Tyr753Leufs*60)
c.1406_1415del, p.(Asn469Thrfs*7)
c.530A>C, p.Gln177Pro (recurring, 3/9 families)
c.395A>C, p.Gln132Pro; c.392G>T, p. Arg131Leu - detected in cis in patient DD5
c.1327 A>C, p.Thr443Pro
Patients with persistent lesions had additional somatic variants in ATP2A2, while individuals with a 'wax and wane' skin presentation did not.

Many other cases of ATP2A2-related Darier disease have been reported in literature:
PMID: 10080178 Sakuntabhai et al., 1999 - 8 unrelated British families and 5 sporadic cases with DD
PMID: 10441325 Jacobsen et al., 1999 - 19 unrelated DD patients with 17 mutations detected in ATP2A2 + link to neuropsychiatric phenotypes
PMID: 35283639 Hagino et al., 2022 - 34-year-old Japanese woman with familial DD, het for c.616A>C (p.Asn206His) in ATP2A2
PMID: 38791022 Frustaci et al., 2024 - 62-year-old female (DD onset at 9yo), developed cardiac symptoms at 60yo, heterozygous for ATP2A2 c.118G>A

This gene is associated with AD Darier disease, OMIM:124200 and Acrokeratosis verruciformis, OMIM:101900 (accessed 13th Nov 2025).; to: PMID: 38536168 Atzmony et al., 2024
9 patients with Darier disease (DD) from (presumed) unrelated families with heterozygous pathogenic germline LoF variants in ATP2A2. 8/9 patients had family history of DD. Age ranged from 40 to 69 years on enrollment. 8/9 individuals had classic disease distribution with hyperkeratotic papules and plaques over seborrheic areas and v-shaped notching of the nails. One patient had comedonal DD, manifested over forehead, cheeks and trunk.
Variants detected in ATP2A2 - none of which are present in gnomAD v4.1.0.:
c.1000C>T, p.Arg334X
c.1582C>T, p.Arg528X
c.2256_2256Dup, p.(Tyr753Leufs*60)
c.1406_1415del, p.(Asn469Thrfs*7)
c.530A>C, p.Gln177Pro (recurring, 3/9 families)
c.395A>C, p.Gln132Pro; c.392G>T, p. Arg131Leu - detected in cis in patient DD5
c.1327 A>C, p.Thr443Pro
Patients with persistent lesions had additional somatic variants in ATP2A2, while individuals with a 'wax and wane' skin presentation did not.

Many other cases of ATP2A2-related Darier disease have been reported in literature:
PMID: 10080178 Sakuntabhai et al., 1999 - 8 unrelated British families and 5 sporadic cases with DD
PMID: 10441325 Jacobsen et al., 1999 - 19 unrelated DD patients with 17 mutations detected in ATP2A2 + link to neuropsychiatric phenotypes
PMID: 35283639 Hagino et al., 2022 - 34-year-old Japanese woman with familial DD, het for c.616A>C (p.Asn206His) in ATP2A2
PMID: 38791022 Frustaci et al., 2024 - 62-year-old female (DD onset at 9yo), developed cardiac symptoms at 60yo, heterozygous for ATP2A2 c.118G>A

This gene is associated with AD Darier disease, OMIM:124200 and Acrokeratosis verruciformis, OMIM:101900 (accessed 13th Nov 2025).
Epidermolysis bullosa and congenital skin fragility v2.7 ATP2A2 Ida Ertmanska edited their review of gene: ATP2A2: Added comment: Comment on list classification: There are numerous patients reported in literature with monoallelic LoF germline variants in ATP2A2 causing Darier disease. Darier disease is characterized by warty papules and plaques in seborrheic areas, palmoplantar pits, and distinctive nail abnormalities (PMID: 10080178). The age of onset is usually in childhood/adolescence. Due to the age of onset, this gene does not fit into the scope of this panel.; Changed rating: RED; Changed publications to: 10080178, 10441325, 35283639, 38791022, 38536168
Epidermolysis bullosa and congenital skin fragility v2.7 ATP2A2 Ida Ertmanska reviewed gene: ATP2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38536168; Phenotypes: Darier disease, OMIM:124200, Acrokeratosis verruciformis, OMIM:101900, Darier disease, MONDO:0007417, acrokeratosis verruciformis, MONDO:0007048; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Epidermolysis bullosa and congenital skin fragility v2.7 ATP2A2 Veronica Kinsler reviewed gene: ATP2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10080178; Phenotypes: Darier disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Epidermolysis bullosa and congenital skin fragility v2.4 ATP2A2 Arina Puzriakova Phenotypes for gene: ATP2A2 were changed from Darier disease, OMIM:124200 to Darier-White disease, OMIM:124200
Epidermolysis bullosa and congenital skin fragility v1.42 ATP2A2 Ivone Leong Phenotypes for gene: ATP2A2 were changed from to Darier disease, OMIM:124200
Epidermolysis bullosa and congenital skin fragility v0.15 ATP2A2 Catherine Snow reviewed gene: ATP2A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermolysis bullosa and congenital skin fragility v0.14 ATP2A2 Catherine Snow gene: ATP2A2 was added
gene: ATP2A2 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: ATP2A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown