This Panel is marked as Retired
Multiple Tumours
Gene: APC
APC (APC, WNT signaling pathway regulator)
EnsemblGeneIds (GRCh38): ENSG00000134982
EnsemblGeneIds (GRCh37): ENSG00000134982
OMIM: 611731, Gene2Phenotype
APC is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000134982
EnsemblGeneIds (GRCh37): ENSG00000134982
OMIM: 611731, Gene2Phenotype
APC is in 16 panels
1 review
Ellen McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:46 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Familial Adenomatous Polyposis (FAP)
- Gardner Syndrome
- Turcot Syndrome
- Colorectal cancer, adenoma
- Familial colon cancer
- Multiple bowel polyps
- Paediatric congenital malformation-dysmorphism-tumour syndromes
- OMIM
- 611731
- Clinvar variants
- Variants in APC
- Penetrance
- Complete
- Panels with this gene
-
- Inherited polyposis and early onset colorectal cancer - germline testing
- Brain cancer pertinent cancer susceptibility
- 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
- Adult solid tumours cancer susceptibility
- Childhood solid tumours
- Additional findings health related - CNV analysis children
- Inherited non-medullary thyroid cancer
- Additional findings health related
- Childhood solid tumours cancer susceptibility
- Multiple monogenic benign skin tumours
History Filter Activity
9 Mar 2016, Gel status: 4
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)APC was added to Multiple Tumourspanel. Source: Expert Review Green Model of inheritance for gene APC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)APC was created by ellenmcdonagh
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)APC was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)