Ectodermal dysplasia

Gene: AXIN2

Amber List (moderate evidence)

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

2 reviews

Arina Puzriakova (Genomics England Curator)

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

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Oligodontia-colorectal cancer syndrome, OMIM:608615
Tags
Q4_21_expert_review Q4_21_NHS_review
OMIM
604025
Clinvar variants
Variants in AXIN2
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

16 Nov 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: AXIN2 were set to 15042511

16 Nov 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_expert_review tag was added to gene: AXIN2.

16 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: axin2 has been classified as Amber List (Moderate Evidence).

16 Nov 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_NHS_review tag was added to gene: AXIN2.

16 Nov 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: AXIN2 were changed from OLIGODONTIA-COLORECTAL CANCER SYNDROME to Oligodontia-colorectal cancer syndrome, OMIM:608615

21 Oct 2021, Gel status: 0

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

Tom Cullup (Great Ormond Street Hospital)

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