| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.3437 | EIF3A | Zornitza Stark Marked gene: EIF3A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3437 | EIF3A | Zornitza Stark Gene: eif3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3437 | EIF3A | Zornitza Stark Classified gene: EIF3A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3437 | EIF3A | Zornitza Stark Gene: eif3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3436 | EIF3A |
Zornitza Stark gene: EIF3A was added gene: EIF3A was added to Mendeliome. Sources: Literature Mode of inheritance for gene: EIF3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EIF3A were set to 41033306 Phenotypes for gene: EIF3A were set to Syndromic disease (MONDO:0002254), EIF3A-related Review for gene: EIF3A was set to GREEN Added comment: Four 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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