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| Regression v0.512 | EPRS | Zornitza Stark Marked gene: EPRS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.512 | EPRS | Zornitza Stark Gene: eprs has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.512 | EPRS | Zornitza Stark Classified gene: EPRS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.512 | EPRS | Zornitza Stark Gene: eprs has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.509 | EPRS |
Lucy Spencer gene: EPRS was added gene: EPRS was added to Regression. Sources: Literature Mode of inheritance for gene: EPRS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPRS were set to 36411955, 29576217 Phenotypes for gene: EPRS were set to Leukodystrophy, hypomyelinating, 15, MIM#617951 Review for gene: EPRS was set to GREEN Added comment: 5 patients across 2 papers, with delayed development (3/5) and/or regression, ataxia, dystonia, hypomyelinating leukodystrophy or periventricular white matter abnormality, 2 with epilepsy, 3 with optic atrophy, 2 with deafness, 3 with microcephaly, 1 noted to have some facial dysmorphism. Sources: Literature |
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