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| 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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| Congenital ophthalmoplegia v0.1 | TUBB3 | Zornitza Stark Marked gene: TUBB3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.1 | TUBB3 | Zornitza Stark Gene: tubb3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.1 | TUBB3 | Zornitza Stark Publications for gene: TUBB3 were set to 27428177; 20074521 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.0 | TUBB3 | Zornitza Stark reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fibrosis of extraocular muscles, congenital, 3A, MIM# 600638; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.0 | TUBB3 | Shannon LeBlanc reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:27428177, 20074521, 26639658; Phenotypes: Fibrosis of extraocular muscles, congenital, 3A 600638, Cortical dysplasia, complex, with other brain malformations 1, 602661; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.0 | TUBB3 |
Zornitza Stark gene: TUBB3 was added gene: TUBB3 was added to Congenital fibrosis of the extraocular muscles. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBB3 were set to 27428177; 20074521 Phenotypes for gene: TUBB3 were set to Fibrosis of extraocular muscles, congenital, 3A 600638; CFEOM3A |
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