| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hydrocephalus_Ventriculomegaly v0.39 | P4HB | Zornitza Stark Marked gene: P4HB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.39 | P4HB | Zornitza Stark Gene: p4hb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.39 | P4HB | Zornitza Stark Classified gene: P4HB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.39 | P4HB | Zornitza Stark Gene: p4hb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.38 | P4HB |
Zornitza Stark gene: P4HB was added gene: P4HB was added to Hydrocephalus_Ventriculomegaly. Sources: Expert list Mode of inheritance for gene: P4HB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: P4HB were set to 30063094; 29263160; 25683117; 29384951 Phenotypes for gene: P4HB were set to Cole-Carpenter syndrome 1, MIM#112240 Review for gene: P4HB was set to GREEN Added comment: Four unrelated individuals reported with same recurrent de novo missense variant, p.Tyr393Cys, and an additional individual with de novo intragenic deletion of exons 5-8. Hydrocephalus is part of the phenotype. Sources: Expert list |
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