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| Leukodystrophy - paediatric v0.297 | U2AF2 | Zornitza Stark Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) to Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.287 | U2AF2 | Elena Savva Classified gene: U2AF2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.287 | U2AF2 | Elena Savva Gene: u2af2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.286 | U2AF2 | Elena Savva Marked gene: U2AF2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.286 | U2AF2 | Elena Savva Gene: u2af2 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.286 | U2AF2 |
Paul De Fazio gene: U2AF2 was added gene: U2AF2 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: U2AF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: U2AF2 were set to 34112922; 37092751; 36747105; 37134193 Phenotypes for gene: U2AF2 were set to Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) Review for gene: U2AF2 was set to RED gene: U2AF2 was marked as current diagnostic Added comment: 4 patients with de novo missense variants reported, however only one report (PMID: 37134193) of hymomyelinating leukodystrophy. Sources: Literature |
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