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| Mendeliome v1.4434 | TUBA3D | Bryony Thompson Classified gene: TUBA3D as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4434 | TUBA3D | Bryony Thompson Gene: tuba3d has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4433 | TUBA3D |
Bryony Thompson gene: TUBA3D was added gene: TUBA3D was added to Mendeliome. Sources: Literature Mode of inheritance for gene: TUBA3D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBA3D were set to 29051577 Phenotypes for gene: TUBA3D were set to keratoconus MONDO:0015486 Review for gene: TUBA3D was set to AMBER Added comment: 4 cases (including twins) with 2 variants. Functional analysis showed that the mutant proteins led to higher expression of matrix metalloproteinase genes and higher levels of oxidative stress, which the authors suggested would reduce extracellular matrix in the corneas and contribute to stromal thinning. Sources: Literature |
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