| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hydrocephalus_Ventriculomegaly v0.69 | MTOR | Zornitza Stark Marked gene: MTOR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.69 | MTOR | Zornitza Stark Gene: mtor has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.69 | MTOR | Zornitza Stark Classified gene: MTOR as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.69 | MTOR | Zornitza Stark Gene: mtor has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.68 | MTOR |
Zornitza Stark gene: MTOR was added gene: MTOR was added to Hydrocephalus_Ventriculomegaly. Sources: Literature Mode of inheritance for gene: MTOR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MTOR were set to 33077954 Phenotypes for gene: MTOR were set to Congenital hydrocephalus; macrocephaly Mode of pathogenicity for gene: MTOR was set to Other Review for gene: MTOR was set to AMBER Added comment: Two de novo missense variants reported in this cohort, along with other variants involved in the MTOR pathway. GOF postulated. Sources: Literature |
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