APC associated Polyposis
Gene: APCEnsemblGeneIds (GRCh38): ENSG00000134982
EnsemblGeneIds (GRCh37): ENSG00000134982
OMIM: 611731, Gene2Phenotype
APC is in 16 panels
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #135290, #175100 & #619182) and these OMIM records were last accessed on 17 December 2025.Created: 17 Dec 2025, 9:52 p.m. | Last Modified: 17 Dec 2025, 9:52 p.m.
Panel Version: 1.2
Eleanor Williams (Genomics England Curator)
APC has been added to the panel for the clinical indication 'R414 APC associated Polyposis' with a green rating as agreed with the NHS Genomic Medicine Service.Created: 14 Jan 2023, 7:15 p.m. | Last Modified: 14 Jan 2023, 9:31 p.m.
Panel Version: 0.5
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Desmoid disease, hereditary, OMIM:135290
- Adenomatous polyposis coli, OMIM:175100
- Brain tumor-polyposis syndrome 2, OMIM:175100
- Gardner syndrome, OMIM:175100
- Gastric adenocarcinoma and proximal polyposis of the stomach, OMIM:619182
- desmoid tumor, MONDO:0007608
- gastric adenocarcinoma and proximal polyposis of the stomach, MONDO:0017790
- familial adenomatous polyposis 1, MONDO:0021056
- OMIM
- 611731
- Clinvar variants
- Variants in APC
- Penetrance
- None
- Panels with this gene
-
- Brain cancer pertinent cancer susceptibility
- Multiple monogenic benign skin tumours
- APC associated Polyposis
- Additional findings health related - children
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- GI tract tumours
- Sarcoma susceptibility
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Additional findings health related - CNV analysis children
- Inherited non-medullary thyroid cancer
- Additional findings health related
- Inherited polyposis and early onset colorectal cancer - germline testing
- Childhood solid tumours cancer susceptibility
History Filter Activity
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: APC were changed from to Desmoid disease, hereditary, OMIM:135290; Adenomatous polyposis coli, OMIM:175100; Brain tumor-polyposis syndrome 2, OMIM:175100; Gardner syndrome, OMIM:175100; Gastric adenocarcinoma and proximal polyposis of the stomach, OMIM:619182; desmoid tumor, MONDO:0007608; gastric adenocarcinoma and proximal polyposis of the stomach, MONDO:0017790; familial adenomatous polyposis 1, MONDO:0021056
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: APC was added gene: APC was added to APC associated Polyposis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: APC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown