Inherited polyposis and early onset colorectal cancer - germline testing
Gene: AXIN2
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed as it was determined that there is insufficient evidence to rate as green on this panel - 'There does not seem to be strong grounds for including this gene as a green gene currently. heterozygous mutations in AXIN2 have very rarely been shown to cause ectodermal dysplasia (including tooth agenesis, or more specifically, oligodontia), and, in some carriers, colorectal cancer and/or adenomatous polyposis develops. Think including now would potentially be problematic in terms of interpretation. Very few reports even considering GEL submissions. May be better as a stand alone syndromic test? One to keep under review'Created: 8 Mar 2022, 10:15 a.m. | Last Modified: 8 Mar 2022, 10:15 a.m.
Panel Version: 1.28
AXIN2 is associated with a relevant phenotype in OMIM (MIM# 608615) but is not yet listed in Gen2Phen. At least 6 unrelated families reported with colorectal cancer and/or colon polyps due to monoallelic variants in the AXIN2. This is often concurrent with oligodontia. Sufficient cases to rate as Green on this panel.
Sources: LiteratureCreated: 16 Nov 2021, 4:54 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Oligodontia-colorectal cancer syndrome, OMIM:608615
Publications
Tag Q4_21_rating was removed from gene: AXIN2.
Gene: axin2 has been classified as Amber List (Moderate Evidence).
gene: AXIN2 was added gene: AXIN2 was added to Inherited polyposis. Sources: Literature Q4_21_rating tags were added to gene: AXIN2. Mode of inheritance for gene: AXIN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AXIN2 were set to 15042511; 21416598; 30671715; 32807118; 34637023 Phenotypes for gene: AXIN2 were set to Oligodontia-colorectal cancer syndrome, OMIM:608615 Review for gene: AXIN2 was set to GREEN