| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.4687 | PPIL1 | Zornitza Stark Marked gene: PPIL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4687 | PPIL1 | Zornitza Stark Gene: ppil1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4687 | PPIL1 | Zornitza Stark Classified gene: PPIL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4687 | PPIL1 | Zornitza Stark Gene: ppil1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4686 | PPIL1 |
Belinda Chong gene: PPIL1 was added gene: PPIL1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPIL1 were set to 33220177 Phenotypes for gene: PPIL1 were set to Pontocerebellar hypoplasia, type 14, MIM# 619301; microcephaly; seizures Review for gene: PPIL1 was set to GREEN gene: PPIL1 was marked as current diagnostic Added comment: The patients presented at birth with severe microcephaly (-2 to -6 SD), which progressed postnatally (-4 to -8 SD) 17 individuals from 9 unrelated families reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Mouse models support gene-disease association. Sources: Literature |
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