Ectodermal dysplasia
Gene: AXIN2

AXIN2 (axin 2)
EnsemblGeneIds (GRCh38): ENSG00000168646
EnsemblGeneIds (GRCh37): ENSG00000168646
OMIM: 604025, Gene2Phenotype
AXIN2 is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 11:16 a.m. | Last Modified: 8 Mar 2022, 11:16 a.m.

Panel Version: 1.35

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: 16 Nov 2021, 4:37 p.m.
Last Modified: 16 Nov 2021, 4:37 p.m.
Panel version: 1.35

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Sources: Other
Created: 21 Oct 2021, 4:28 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
OLIGODONTIA-COLORECTAL CANCER SYNDROME

Publications

15042511

Created: 21 Oct 2021, 4:28 p.m.

Panel version: 1.26

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green

Phenotypes

Oligodontia-colorectal cancer syndrome, OMIM:608615

OMIM

604025

Clinvar variants

Variants in AXIN2

Penetrance

unknown

Publications

Panels with this gene