Colorectal Cancer and Polyposis
Gene: AXIN2EnsemblGeneIds (GRCh38): ENSG00000168646
EnsemblGeneIds (GRCh37): ENSG00000168646
OMIM: 604025, Gene2Phenotype
AXIN2 is in 4 panels
1 review
Chirag Patel (Genetic Health Queensland)
ClinGen definitive. Colorectal cancers and/or polyposis reported in condition.
Sources: Expert list, Expert ReviewCreated: 25 Sep 2024, 10:14 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Colorectal cancer, MONDO:0005575; Polyposis, MONDO:0000147; AXIN2-related attenuated familial adenomatous polyposis, MONDO:0018426; Oligodontia-cancer predisposition syndrome, MONDO:0012075; Oligodontia-colorectal cancer syndrome, MIM#608615
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Expert list
- Phenotypes
-
- AXIN2-related attenuated familial adenomatous polyposis, MONDO:0018426
- Oligodontia-cancer predisposition syndrome, MONDO:0012075
- Oligodontia-colorectal cancer syndrome, MIM#608615
- OMIM
- 604025
- Clinvar variants
- Variants in AXIN2
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: axin2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: axin2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: AXIN2 was added gene: AXIN2 was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review Mode of inheritance for gene: AXIN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AXIN2 were set to AXIN2-related attenuated familial adenomatous polyposis, MONDO:0018426; Oligodontia-cancer predisposition syndrome, MONDO:0012075; Oligodontia-colorectal cancer syndrome, MIM#608615 Review for gene: AXIN2 was set to GREEN