Facial papules
Gene: ATP2A2EnsemblGeneIds (GRCh38): ENSG00000174437
EnsemblGeneIds (GRCh37): ENSG00000174437
OMIM: 108740, Gene2Phenotype
ATP2A2 is in 6 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Papules on the seborrheic areas of the head and neck are a predominant feature of Darier disease.
Sources: Expert listCreated: 17 Jun 2023, 6:21 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Darier disease MONDO:0007417
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Darier disease MONDO:0007417
- OMIM
- 108740
- Clinvar variants
- Variants in ATP2A2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: atp2a2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: atp2a2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ATP2A2 was added gene: ATP2A2 was added to Facial papules. Sources: Expert list Mode of inheritance for gene: ATP2A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP2A2 were set to 10080178; 31911771 Phenotypes for gene: ATP2A2 were set to Darier disease MONDO:0007417 Review for gene: ATP2A2 was set to GREEN gene: ATP2A2 was marked as current diagnostic