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| Congenital ophthalmoplegia v1.6 | MYO9A | Zornitza Stark Classified gene: MYO9A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v1.6 | MYO9A | Zornitza Stark Gene: myo9a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v1.5 | MYO9A | Zornitza Stark edited their review of gene: MYO9A: Added comment: This gene-disease association has been reviewed as part of GenCC discordance resolution: note at least two of the variants reported have homozygotes with gnomad, which would be out of keeping for a severe paediatric disorder.; Changed rating: AMBER; Changed phenotypes: Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.92 | MYO9A | Zornitza Stark Marked gene: MYO9A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.92 | MYO9A | Zornitza Stark Gene: myo9a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.92 | MYO9A | Zornitza Stark Classified gene: MYO9A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.92 | MYO9A | Zornitza Stark Gene: myo9a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.91 | MYO9A |
Zornitza Stark gene: MYO9A was added gene: MYO9A was added to Congenital ophthalmoplegia. Sources: Expert list Mode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO9A were set to Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198 Review for gene: MYO9A was set to GREEN Added comment: Ptosis and ophthalmoplegia are common features of CMS. Sources: Expert list |
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