Additional findings health related - children
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Familial Adenomatous Polyposis
- Adult and child
- Bowel cancer predisposition
- 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
- 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
20 Apr 2020, Gel status: 3
Set transcript
Eleanor Williams (Genomics England Curator)Transcript for gene APC was changed from None to ENST00000257430.9; NM_000038.5
20 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: APC was added gene: APC was added to Additional findings health related child. Sources: Expert list,Expert Review Green Mode of inheritance for gene: APC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: APC were set to Familial Adenomatous Polyposis; Adult and child; Bowel cancer predisposition