Peutz-Jeghers syndrome
Gene: APCEnsemblGeneIds (GRCh38): ENSG00000134982
EnsemblGeneIds (GRCh37): ENSG00000134982
OMIM: 611731, Gene2Phenotype
APC is in 16 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed G2P for Adenomatous polyposis coli 175100 and Desmoid disease, hereditary 135290. Numerous variants reported in Adenomatous polyposis coli 175100 and at least 5 variants reported in Desmoid disease, hereditary 135290. However, none of the phenotypes associated with APC include the hamartomatous polyps characteristic of Peutz-Jeghers syndrome.Created: 11 Apr 2017, 2:40 p.m.
Comment on phenotypes: Also associated with Adenoma, periampullary, somatic; Colorectal cancer, somatic 114500; Gastric cancer, somatic 613659; Hepatoblastoma, somatic 114550Created: 11 Apr 2017, 2:36 p.m.
Comment on phenotypes: Increased risk of colorectal cancerCreated: 11 Apr 2017, 2:30 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- UKGTN
- Eligibility statement prior genetic testing
- Expert list
- Eligibility statement prior genetic testing
- Phenotypes
-
- Adenomatous polyposis coli 175100
- Brain tumor-polyposis syndrome 2 175100
- Gardner syndrome 175100
- Desmoid disease, hereditary 135290
- OMIM
- 611731
- Clinvar variants
- Variants in APC
- Penetrance
- Complete
- 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
- Childhood solid tumours
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- GI tract tumours
- Sarcoma susceptibility
- 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
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for APC were set to Adenomatous polyposis coli 175100; Brain tumor-polyposis syndrome 2 175100; Gardner syndrome 175100; Desmoid disease, hereditary 135290
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for APC were set to Adenomatous polyposis coli 175100; Brain tumor-polyposis syndrome 2 175100; Gardner syndrome 175100
Added New Source
Ellen McDonagh (Genomics England Curator)APC was added to Peutz-Jeghers syndromepanel. Source: Illumina TruGenome Clinical Sequencing Services APC was added to Peutz-Jeghers syndromepanel. Source: UKGTN APC was added to Peutz-Jeghers syndromepanel. Source: Expert Review Green
Added New Source
Ellen McDonagh (Genomics England Curator)APC was added to Peutz-Jeghers syndromepanel. Sources: Emory Genetics Laboratory,Expert list,Eligibility statement prior genetic testing,Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)APC was created by ellenmcdonagh