Ectodermal dysplasiaGene: AXIN2
Comment on list classification: New gene added by Tom Cullup (GOSH). Variants are associated with tooth agenesis (PMID: 15042511; 21626677; 30671715; 32807118), often additionally with colon polyps and colorectal cancer. Two families have been identified with concurrent ectodermal dysplasia including sparse or brittle hair and/or eyebrows and dry skin (PMID: 21416598; 34637023).
Given that in most families ectodermal features are isolated to oligodontia only, this gene will be flagged for GMS review to determine whether there is enough evidence to rate AXIN2 as Green on this panel.
Created: 16 Nov 2021, 4:37 p.m. | Last Modified: 16 Nov 2021, 4:37 p.m.
Panel Version: 1.29
Created: 21 Oct 2021, 4:28 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
OLIGODONTIA-COLORECTAL CANCER SYNDROME
Publications for gene: AXIN2 were set to 15042511
Tag Q4_21_expert_review tag was added to gene: AXIN2.
Gene: axin2 has been classified as Amber List (Moderate Evidence).
Tag Q4_21_NHS_review tag was added to gene: AXIN2.
Phenotypes for gene: AXIN2 were changed from OLIGODONTIA-COLORECTAL CANCER SYNDROME to Oligodontia-colorectal cancer syndrome, OMIM:608615
gene: AXIN2 was added gene: AXIN2 was added to Ectodermal dysplasia. Sources: Other Mode of inheritance for gene: AXIN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AXIN2 were set to 15042511 Phenotypes for gene: AXIN2 were set to OLIGODONTIA-COLORECTAL CANCER SYNDROME Penetrance for gene: AXIN2 were set to unknown Review for gene: AXIN2 was set to GREEN