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| Genetic Epilepsy v0.1334 | OTUD5 | Zornitza Stark Marked gene: OTUD5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1334 | OTUD5 | Zornitza Stark Gene: otud5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1334 | OTUD5 | Zornitza Stark Phenotypes for gene: OTUD5 were changed from X-Linked Intellectual Disability and Congenital Malformation to Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, MIM# 301056 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1332 | OTUD5 | Zornitza Stark Classified gene: OTUD5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1332 | OTUD5 | Zornitza Stark Gene: otud5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1331 | OTUD5 | Zornitza Stark reviewed gene: OTUD5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, MIM# 301056; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1317 | OTUD5 |
Belinda Chong gene: OTUD5 was added gene: OTUD5 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: OTUD5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: OTUD5 were set to PMID:33748114 Phenotypes for gene: OTUD5 were set to X-Linked Intellectual Disability and Congenital Malformation Review for gene: OTUD5 was set to AMBER Added comment: A hemizygous OTUD5 missense variant, c.878A>T, p.Asn293Ile [NM_017602.4], was identified in a family in two brothers with epilepsy and brain magnetic resonance imaging showed a thin corpus callosum and mild ventriculomegaly. Sources: Literature |
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