Sarcoma susceptibility
Gene: APCEnsemblGeneIds (GRCh38): ENSG00000134982
EnsemblGeneIds (GRCh37): ENSG00000134982
OMIM: 611731, Gene2Phenotype
APC is in 16 panels
1 review
Rebecca Foulger (Genomics England curator)
This gene was added to the panel as suggested by Dr Fernanda Amary (Royal National Orthopaedic Hospital, NHS Trust). Gene Symbol submitted: APC; Phenotype submitted: Gardner / fibromatosis. Rated Amber as agreed at the Genomics Cancer Panel Workshop, 16th July 2019.Created: 23 Jul 2019, 3:16 p.m. | Last Modified: 23 Jul 2019, 3:16 p.m.
Panel Version: 0.2
Phenotypes
Gardner syndrome
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Amber
- Expert list
- Phenotypes
-
- Gardner syndrome, OMIM:175100
- Sarcoma, MONDO:0005089
- OMIM
- 611731
- Clinvar variants
- Variants in APC
- Penetrance
- None
- Publications
- 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 publications
Arina Puzriakova (Genomics England Curator)Publications for gene: APC were set to
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: APC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: APC were changed from Gardner / fibromatosis; Gardner syndrome to Gardner syndrome, OMIM:175100; Sarcoma, MONDO:0005089
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to APC.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: APC was added gene: APC was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: APC was set to Phenotypes for gene: APC were set to Gardner / fibromatosis; Gardner syndrome