Epidermolysis bullosa
Gene: ATP2A2EnsemblGeneIds (GRCh38): ENSG00000174437
EnsemblGeneIds (GRCh37): ENSG00000174437
OMIM: 108740, Gene2Phenotype
ATP2A2 is in 6 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
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: LiteratureCreated: 10 Aug 2020, 2:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Darier disease (MIM#124200)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Darier disease (MIM#124200)
- OMIM
- 108740
- Clinvar variants
- Variants in ATP2A2
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atp2a2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atp2a2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Ain Roesley (Victorian Clinical Genetics Services)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