Inherited polyposis
Gene: APCAs discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 31 Jul 2019, 12:34 p.m. | Last Modified: 31 Jul 2019, 12:34 p.m.
Panel Version: 0.48
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tumor Suppressor.Created: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Familial Adenomatous Polyposis
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.
Comment on list classification: Well established current diagnostic gene.Created: 7 Feb 2016, 9:13 p.m.
Only protein-truncating variants pathogenicCreated: 8 Dec 2015, 3:03 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity
Other
Mutations listed and interpreted by the International Society for Gastrointestinal Hereditary Cancer at http://chromium.lovd.nl/LOVD2/colon_cancer/home.php?select_db=APC , as recognised by GA4GHCreated: 8 Dec 2015, 2:10 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Colorectal adenomas; Colorectal Carcinoma
Phenotypes for gene: APC were changed from Desmoid disease, hereditary 135290; Brain tumor-polyposis syndrome 2 175100; Gardner syndrome 175100; Adenomatous polyposis coli 175100 to Desmoid disease, hereditary, OMIM:135290; Brain tumor-polyposis syndrome 2, OMIM:175100; Gardner syndrome, OMIM:175100; Adenomatous polyposis coli, OMIM:175100; Gastric adenocarcinoma and proximal polyposis of the stomach, OMIM:619182
Added phenotypes Desmoid disease, hereditary 135290; Brain tumor-polyposis syndrome 2 175100; Gardner syndrome 175100; Adenomatous polyposis coli 175100 for gene: APC
Mode of inheritance for gene: APC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: apc has been classified as Green List (High Evidence).
gene: APC was added gene: APC was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: APC was set to