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| 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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| Mendeliome v2.0 | CSMD3 | Gene migrated from ENSG00000164796 to ENSG00000164796 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4184 | CSMD3 | Zornitza Stark reviewed gene: CSMD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 35245678; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2930 | CSMD3 | Zornitza Stark Marked gene: CSMD3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2930 | CSMD3 | Zornitza Stark Gene: csmd3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2930 | CSMD3 | Zornitza Stark Classified gene: CSMD3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2930 | CSMD3 | Zornitza Stark Gene: csmd3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2925 | CSMD3 |
Sarah Milton gene: CSMD3 was added gene: CSMD3 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CSMD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSMD3 were set to PMID: 40632521 Phenotypes for gene: CSMD3 were set to Epilepsy, MONDO:0005027, CSMD3-related Review for gene: CSMD3 was set to GREEN Added comment: CSMD3 encodes a synaptic membrane proteins and play a role in neuronal maturation/growth dendrites. A related protein CSMD1 has been previously associated with a complex neurodevelopmental disorder. PMID: 40632521 describes 8 individuals with seizures. 4 with focal epilepsy, 3 with febrile seizures and 1 individual with infantile spasms. 1 individual described had a de novo missense variant with remainder having comp het/biallelic variants. Mild ID in 1 individual only. Variant type mostly missense variants with 1 nonsense, all appropriately rare in gnomAD v4 for recessive disorder. No variant specific functional studies performed, no clear discussion in paper about postulated mechanism for disease. No discussion around difference in mechanism for de novo monoallelic variant. Previous studies showed homozygous knockout mice display abnormal neuronal proliferation and growth retardation. Sources: Literature |
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