| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Epidermolysis bullosa v0.28 | ATP2A2 | Zornitza Stark Marked gene: ATP2A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.28 | ATP2A2 | Zornitza Stark Gene: atp2a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.28 | ATP2A2 | Zornitza Stark Classified gene: ATP2A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.28 | ATP2A2 | Zornitza Stark Gene: atp2a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.24 | ATP2A2 |
Ain Roesley gene: ATP2A2 was added gene: ATP2A2 was added to Epidermolysis bullosa. Sources: Literature Mode of inheritance for gene: ATP2A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATP2A2 were set to 10441324; 17635506 Phenotypes for gene: ATP2A2 were set to Darier disease (MIM#124200) Penetrance for gene: ATP2A2 were set to unknown Review for gene: ATP2A2 was set to GREEN Added comment: Characteristic lesions in DD are hyperkeratotic, erythematous, pruritic plaques that may ulcerate, scale and turn gray, getcrusted, or coalesce into larger lesions. Acral haemorrhagic Darier disease causes macules, papules, vesicles and/or hemorrhagic blisters on the extremities. Haemorrhagic DD described in PMID: 10441324; 2 unrelated Italian families + 1 scottish family with p.(Asn767Ser) 1 Swedish family with p.(Cys268Phe) PMID: 17635506; 1 Japanese family with 9 affecteds harbouring p.(Asn767Ser) Sources: Literature |
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