Additional findings health related
Gene: APCEnsemblGeneIds (GRCh38): ENSG00000134982
EnsemblGeneIds (GRCh37): ENSG00000134982
OMIM: 611731, Gene2Phenotype
APC is in 16 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment on phenotypes: Clinically relevant transcript NM_000038.5Created: 21 May 2018, 3:49 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Bowel cancer predisposition
- Familial Adenomatous Polyposis
- Adult and child
- Transcripts
-
- ENST00000257430.9
- NM_000038.5
- 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
- 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
Set transcript
Catherine Snow (Genomics England)Transcript for gene APC was changed from ENST00000257430.9 to ENST00000257430.9; NM_000038.5
Removed Source, Removed Source, Added New Source, Set Phenotypes, Set transcript
Ellen McDonagh (Genomics England Curator)Source Additional Findings was removed from APC. Source ACMG was removed from APC. Source Expert list was added to APC. Phenotypes for gene: APC were changed from ENST00000257430.8; Bowel cancer predisposition; Familial Adenomatous Polyposis; Adult and child to Bowel cancer predisposition; Familial Adenomatous Polyposis; Adult and child Transcript for gene APC was changed from None to ENST00000257430.9
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene: APC were changed from ENST00000257430; Bowel cancer predisposition; Familial Adenomatous Polyposis; Adult and child to ENST00000257430.8; Bowel cancer predisposition; Familial Adenomatous Polyposis; Adult and child
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene: APC were changed from NM_000038.5; ENST00000257430.8; Bowel cancer predisposition; Familial Adenomatous Polyposis; Adult and child to ENST00000257430; Bowel cancer predisposition; Familial Adenomatous Polyposis; Adult and child
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene: APC were changed from NM_000038.5; Bowel cancer predisposition; Familial Adenomatous Polyposis; Adult and child to NM_000038.5; ENST00000257430.8; Bowel cancer predisposition; Familial Adenomatous Polyposis; Adult and child
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for APC were set to NM_000038.5; Bowel cancer predisposition; Familial Adenomatous Polyposis; Adult and child
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for APC were set to Bowel cancer predisposition; Familial Adenomatous Polyposis; Adult and child
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)APC was added to Genomics England Secondary Findings panel. Sources: ACMG,Additional Findings
Created
Ellen McDonagh (Genomics England Curator)APC was created by Ellen McDonagh