| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.3439 | EIF3B | Zornitza Stark Marked gene: EIF3B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3439 | EIF3B | Zornitza Stark Gene: eif3b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3439 | EIF3B | Zornitza Stark Classified gene: EIF3B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3439 | EIF3B | Zornitza Stark Gene: eif3b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3438 | EIF3B |
Zornitza Stark gene: EIF3B was added gene: EIF3B was added to Mendeliome. Sources: Literature Mode of inheritance for gene: EIF3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EIF3B were set to 41033306 Phenotypes for gene: EIF3B were set to Syndromic disease (MONDO:0002254), EIF3B-related Review for gene: EIF3B was set to GREEN Added comment: Fourteen individuals reported with mono-allelic variants. The clinical phenotype varied but predominantly included cardiac defects, craniofacial dysmorphisms, mild developmental delays, and behavioural abnormalities. Zebrafish model recapitulated phenotype. Sources: Literature |
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