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  2. Ectodermal Dysplasia
  3. AXIN2
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Ectodermal Dysplasia

Gene: AXIN2

Amber List (moderate evidence)
AXIN2 (axin 2)
EnsemblGeneIds (GRCh38): ENSG00000168646
EnsemblGeneIds (GRCh37): ENSG00000168646
OMIM: 604025, Gene2Phenotype
AXIN2 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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).
Sources: Expert Review
Created: 3 Dec 2021, 8:59 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Oligodontia-colorectal cancer syndrome, MIM# 608615

Publications

Created: 3 Dec 2021, 8:59 a.m.

Panel version: 0.60

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Oligodontia-colorectal cancer syndrome, MIM# 608615
OMIM
604025
Clinvar variants
Variants in AXIN2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Dec 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AXIN2 was added gene: AXIN2 was added to Ectodermal Dysplasia. Sources: Expert Review Mode of inheritance for gene: AXIN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AXIN2 were set to 15042511; 21626677; 21416598; 34637023 Phenotypes for gene: AXIN2 were set to Oligodontia-colorectal cancer syndrome, MIM# 608615 Review for gene: AXIN2 was set to AMBER