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| Mendeliome v2.325 | FIBCD1 | Lucy Spencer Classified gene: FIBCD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.325 | FIBCD1 | Lucy Spencer Gene: fibcd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.324 | FIBCD1 |
Lucy Spencer gene: FIBCD1 was added gene: FIBCD1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: FIBCD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FIBCD1 were set to 35916241 Phenotypes for gene: FIBCD1 were set to neurodevelopmental disorder MONDO:0700092, FIBCD1-related Review for gene: FIBCD1 was set to AMBER Added comment: PMID 35916241 reports 2 individual from 2 families with a neurodevelopmental disorder and biallelic missense in FIBCD1 (One compound het p.G29S and p.R406C, one homozygous due to UPD p.P456L). One individual also had a de novo missense in CSMD3 K522E which has an established BIallelic association with epilepsy. Features included severe NDD or ASD, dysmorphic features and in one individual MRI abnormalities. knockdown studies in mice and drosophila recapitulated neurobehavioral deficits. Sources: Literature |
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