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  3. APC
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Colorectal Cancer and Polyposis

Gene: APC

Green List (high evidence)
APC (APC, WNT signaling pathway regulator)
EnsemblGeneIds (GRCh38): ENSG00000134982
EnsemblGeneIds (GRCh37): ENSG00000134982
OMIM: 611731, Gene2Phenotype
APC is in 11 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ClinGen definitive. Colorectal cancers and/or polyposis reported in condition.
Sources: Expert list, Expert Review
Created: 25 Sep 2024, 10:14 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Colorectal cancer, MONDO:0005575; Polyposis, MONDO:0000147; APC-related attenuated familial adenomatous polyposis, MONDO:0016613; Classic familial adenomatous polyposis, MONDO:0021055; Familial adenomatous polyposis 1, MONDO:0021056; Adenomatous polyposis coli, MIM#175100

Created: 25 Sep 2024, 10:14 p.m.

Panel version: 0.10

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • APC-related attenuated familial adenomatous polyposis, MONDO:0016613
  • Classic familial adenomatous polyposis, MONDO:0021055
  • Familial adenomatous polyposis 1, MONDO:0021056
  • Adenomatous polyposis coli, MIM#175100
OMIM
611731
Clinvar variants
Variants in APC
Penetrance
None
Panels with this gene

History Filter Activity

9 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: apc has been classified as Green List (High Evidence).

25 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: apc has been classified as Green List (High Evidence).

25 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: apc has been classified as Green List (High Evidence).

25 Sep 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

gene: APC was added gene: APC was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review Mode of inheritance for gene: APC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: APC were set to APC-related attenuated familial adenomatous polyposis, MONDO:0016613; Classic familial adenomatous polyposis, MONDO:0021055; Familial adenomatous polyposis 1, MONDO:0021056; Adenomatous polyposis coli, MIM#175100 Review for gene: APC was set to GREEN