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| Ectodermal Dysplasia v0.61 | AXIN2 | Zornitza Stark Marked gene: AXIN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.61 | AXIN2 | Zornitza Stark Gene: axin2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.61 | AXIN2 | Zornitza Stark Classified gene: AXIN2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.61 | AXIN2 | Zornitza Stark Gene: axin2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.60 | AXIN2 |
Zornitza Stark 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 Added comment: 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 |
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