| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Macrocephaly_Megalencephaly v0.99 | WDFY3 | Zornitza Stark Marked gene: WDFY3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.99 | WDFY3 | Zornitza Stark Gene: wdfy3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.99 | WDFY3 | Zornitza Stark Classified gene: WDFY3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.99 | WDFY3 | Zornitza Stark Gene: wdfy3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.98 | WDFY3 |
Ain Roesley gene: WDFY3 was added gene: WDFY3 was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: WDFY3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WDFY3 were set to 31327001 Phenotypes for gene: WDFY3 were set to Neurodevelopmental disorder with macrocephaly Penetrance for gene: WDFY3 were set to unknown Review for gene: WDFY3 was set to AMBER gene: WDFY3 was marked as current diagnostic Added comment: De novo (And 2x inherited from similarly affected parent) variants reported in individuals described to have macrocephaly, mostly PTCs and missense not in the PH domain (where microcephaly variants are reported) . But OFC doesn't sound very macro (5/9 >97th percentile and 4/9 between 87th and 95th percentiles). Het +/- mice displayed megalencephaly Sources: Literature |
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