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| Genetic Epilepsy v0.2034 | BICD2 | Zornitza Stark Marked gene: BICD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2034 | BICD2 | Zornitza Stark Gene: bicd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2034 | BICD2 | Zornitza Stark Phenotypes for gene: BICD2 were changed from spinal muscular atrophy MONDO:0001516 to Neurodevelopmental disorder, BICD2-related (MONDO#0700092) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2033 | BICD2 | Zornitza Stark Classified gene: BICD2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2033 | BICD2 | Zornitza Stark Gene: bicd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2028 | BICD2 |
Lilian Downie gene: BICD2 was added gene: BICD2 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: BICD2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: BICD2 were set to PMID: 35896821, PMID: 28635954, PMID: 32057122, PMID: 25497877, PMID: 35338243 Phenotypes for gene: BICD2 were set to spinal muscular atrophy MONDO:0001516 Review for gene: BICD2 was set to AMBER Added comment: mostly AD cases reported, new more severe presentation reported x2 with biallelic variants: seizures part of the AR phenotype in both cases From the literature of AD SMA cases: PMID: PMID: 32057122 2x patients from same family with seizures as part of the phenotype PMID: 28635954 patient suspected clinically as having seizures but not proven PMID: 25497877 large cohort (N=32 patients from 9 families) no seizures Sources: Expert list |
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