Facial papules
Gene: APCEnsemblGeneIds (GRCh38): ENSG00000134982
EnsemblGeneIds (GRCh37): ENSG00000134982
OMIM: 611731, Gene2Phenotype
APC is in 11 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Benign cutaneous lesions on the face including epidermoid cysts and fibromas are extra-intestinal features of FAP
Sources: Expert listCreated: 19 Jun 2023, 1:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Classic or attenuated familial adenomatous polyposis MONDO:0021057
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
-
- Classic or attenuated familial adenomatous polyposis MONDO:0021057
- OMIM
- 611731
- Clinvar variants
- Variants in APC
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: apc has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: apc 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: APC was added gene: APC was added to Facial papules. Sources: Expert list Mode of inheritance for gene: APC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: APC were set to 20301519 Phenotypes for gene: APC were set to Classic or attenuated familial adenomatous polyposis MONDO:0021057 Review for gene: APC was set to GREEN gene: APC was marked as current diagnostic