Peutz-Jeghers syndrome

Gene: APC

Green List (high evidence)

APC (APC, WNT signaling pathway regulator)
EnsemblGeneIds (GRCh38): ENSG00000134982
EnsemblGeneIds (GRCh37): ENSG00000134982
OMIM: 611731, Gene2Phenotype
APC is in 17 panels

1 review

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
  • Eligibility statement prior genetic testing
  • Expert list
  • Eligibility statement prior genetic testing
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

11 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Apr 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 Apr 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

3 Jun 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

APC was added to Peutz-Jeghers syndromepanel. Source: Illumina TruGenome Clinical Sequencing Services APC was added to Peutz-Jeghers syndromepanel. Source: UKGTN APC was added to Peutz-Jeghers syndromepanel. Source: Expert Review Green

3 Jun 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

APC was added to Peutz-Jeghers syndromepanel. Sources: Emory Genetics Laboratory,Expert list,Eligibility statement prior genetic testing,Expert Review Green

3 Jun 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

APC was created by ellenmcdonagh