GI tract tumours

Gene: APC

Green List (high evidence)

APC (APC, WNT signaling pathway regulator)
EnsemblGeneIds (GRCh38): ENSG00000134982
EnsemblGeneIds (GRCh37): ENSG00000134982
OMIM: 611731, Gene2Phenotype
APC is in 14 panels

7 reviews

Ivone Leong (Genomics England Curator)

As 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, 12:26 p.m. | Last Modified: 31 Jul 2019, 12:26 p.m.
Panel Version: 1.13

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Lara Hawkes (Genomics England)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

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 114550
Created: 11 Apr 2017, 2:36 p.m.
Comment on phenotypes: Increased risk of colorectal cancer
Created: 11 Apr 2017, 2:30 p.m.

Ellen Thomas (Genomics England Curator)

Comment on list classification: Well established current diagnostic gene.
Created: 7 Feb 2016, 9:13 p.m.

Ian Tomlinson (University of Oxford)

Green List (high evidence)

Only protein-truncating variants pathogenic
Created: 8 Dec 2015, 3:03 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Mode of pathogenicity
Other

Ian Frayling (Cardiff University)

Green List (high evidence)

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 GA4GH
Created: 8 Dec 2015, 2:10 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Colorectal adenomas; Colorectal Carcinoma

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert List
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Adenomatous polyposis coli 175100
  • Brain tumor-polyposis syndrome 2 175100
  • Gardner syndrome 175100
  • Desmoid disease, hereditary 135290
OMIM
611731
Clinvar variants
Variants in APC
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 3

Added New Source, Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert List was added to APC. Source NHS GMS was added to APC. Rating Changed from Green List (high evidence) to Green List (high evidence)

12 May 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

This panel has been formed as a result of merging Familial colon cancer (Version 1.5), Multiple bowel polyps (Version 1.9), Peutz-Jeghers syndrome (Version 0.20) panels and copying the reviews from each panel into this united GI Tract panel

12 May 2017, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for APC were set to Adenomatous polyposis coli 175100; Brain tumor-polyposis syndrome 2 175100; Gardner syndrome 175100; Desmoid disease, hereditary 135290

11 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

APC was added to GI tractpanel. Source: Illumina TruGenome Clinical Sequencing Services APC was added to GI tractpanel. Source: UKGTN

11 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

APC was added to GI tractpanel. Sources: Emory Genetics Laboratory,Expert list,Eligibility statement prior genetic testing,Expert Review Green

11 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

APC was created by ellenmcdonagh