| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital ophthalmoplegia v1.10 | MAFB | Zornitza Stark Marked gene: MAFB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v1.10 | MAFB | Zornitza Stark Gene: mafb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v1.10 | MAFB | Zornitza Stark Classified gene: MAFB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v1.10 | MAFB | Zornitza Stark Gene: mafb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v1.9 | MAFB |
Zornitza Stark gene: MAFB was added gene: MAFB was added to Congenital ophthalmoplegia. Sources: Literature Mode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAFB were set to 27181683; 34964110; 29779709 Phenotypes for gene: MAFB were set to Duane retraction syndrome 3, MIM# 617041 Review for gene: MAFB was set to GREEN Added comment: At least 5 families reported with variants in this gene and Duane anomaly, supportive functional data. Some individuals also had inner ear agenesis and glomerular disease. Sources: Literature |
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