| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital ophthalmoplegia v1.2 | TUBA1A | Sue White Marked gene: TUBA1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v1.2 | TUBA1A | Sue White Gene: tuba1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v1.2 | TUBA1A | Sue White Classified gene: TUBA1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v1.2 | TUBA1A | Sue White Gene: tuba1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v1.1 | TUBA1A |
Kristin Rigbye gene: TUBA1A was added gene: TUBA1A was added to Congenital ophthalmoplegia. Sources: Literature Mode of inheritance for gene: TUBA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBA1A were set to 30677308 Phenotypes for gene: TUBA1A were set to Congenital fibrosis of the extraocular muscles, AD Review for gene: TUBA1A was set to GREEN Added comment: PMID: 30677308 New genotype-phenotype correlation - congenital fibrosis of the extraocular muscles (CFEOM), with or without malformations of cortical brain development. 3 unrelated probands with CFEOM who harbored novel heterozygous TUBA1A missense variants c.1216C>G, p.(His406Asp); c.467G>A, p.(Arg156His); and c.1193T>G, p.(Met398Arg). MRI revealed small oculomotor-innervated muscles and asymmetrical caudate heads and lateral ventricles with or without corpus callosal thinning. Two of the three probands had MCD. Infantile onset. Distinct missense variants in the beta-tubulin encoding genes TUBB3 and TUBB2B cause MCD, CFEOM, or both, suggesting substitution-specific mechanisms. Sources: Literature |
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