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| Clefting disorders v1.0 | AXIN2 |
Lauren Rogers changed review comment from: PMID: 36860143: 1x family with an NMD variant with 3/3 cleft palate, 1/3 hypodontia PMID: 42429102: 1x individual with a de novo missense variant with cleft palate among other features including oligodontia Also multiple SNP association studies that suggest AXIN2 is associated with cleft lip and palate (PMID: 26602496, 22370446, 31268379) Sources: Literature; to: PMID: 36860143: 1x family with an NMD variant with 3/3 cleft palate, 1/3 hypodontia PMID: 42429102: 1x individual with a de novo missense variant with cleft palate among other features including oligodontia Also multiple SNP association studies that suggest AXIN2 is associated with cleft lip and palate (PMID: 26602496, 22370446, 31268379) Sources: Literature |
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| Clefting disorders v1.0 | AXIN2 |
Lauren Rogers gene: AXIN2 was added gene: AXIN2 was added to Clefting disorders. Sources: Literature Mode of inheritance for gene: AXIN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AXIN2 were set to PMID: 36860143; 42429102; 26602496; 22370446; 31268379 Phenotypes for gene: AXIN2 were set to Oligodontia-colorectal cancer syndrome (MIM#608615) Review for gene: AXIN2 was set to AMBER Added comment: PMID: 36860143: 1x family with an NMD variant with 3/3 cleft palate, 1/3 hypodontia PMID: 42429102: 1x individual with a de novo missense variant with cleft palate among other features including oligodontia Also multiple SNP association studies that suggest AXIN2 is associated with cleft lip and palate (PMID: 26602496, 22370446, 31268379) Sources: Literature |
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