| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Macrocephaly_Megalencephaly v0.74 | TRIO | Zornitza Stark Marked gene: TRIO as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.74 | TRIO | Zornitza Stark Gene: trio has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.74 | TRIO | Zornitza Stark Mode of inheritance for gene: TRIO was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.73 | TRIO | Zornitza Stark Classified gene: TRIO as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.73 | TRIO | Zornitza Stark Gene: trio has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.72 | TRIO |
Elena Savva commented on gene: TRIO: LOF = microcephaly, GOF = macrocephaly PMID: 32109419: Missense within the GEFD1 domain have lost the ability to bind RAC1 (LOF) causing microcephaly, (with p.P1461L the exception). Missense within the 7th spectrin repeat cause increased RAC1 activation (GOF) causing macrocephaly PTCs = LOF PMID: 32109419 - 7/9 patients with global dev delay also had macrocephaly |
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| Macrocephaly_Megalencephaly v0.72 | TRIO |
Elena Savva gene: TRIO was added gene: TRIO was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: TRIO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRIO were set to PMID: 32109419; 28928363 Phenotypes for gene: TRIO were set to Intellectual developmental disorder, autosomal dominant 44, with microcephaly MIM#617061; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly MIM#618825 Mode of pathogenicity for gene: TRIO was set to Other Review for gene: TRIO was set to GREEN Added comment: LOF = microcephaly, GOF = macrocephaly PMID: 32109419: Missense within the GEFD1 domain have lost the ability to bind RAC1 (LOF) causing microcephaly, (with p.P1461L the exception). Missense within the 7th spectrin repeat cause increased RAC1 activation (GOF) causing macrocephaly PTCs = LOF Sources: Literature |
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