Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Fetal anomalies v0.4729 | EXOSC8 | Zornitza Stark Marked gene: EXOSC8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.4729 | EXOSC8 | Zornitza Stark Gene: exosc8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.4729 | EXOSC8 | Zornitza Stark Classified gene: EXOSC8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.4729 | EXOSC8 | Zornitza Stark Gene: exosc8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.4722 | EXOSC8 |
Krithika Murali changed review comment from: Severe autosomal recessive neurodegenerative disorder. PMID 24989451 report polyhydramnios, vermis hypoplasia, mega cisterna magna and corpus callosum anomalies in affectd individuals Sources: Literature; to: Severe autosomal recessive neurodegenerative disorder. PMID 24989451 (more info in supplementary material) report polyhydramnios, vermis hypoplasia, mega cisterna magna and corpus callosum anomalies in affectd individuals Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.4722 | EXOSC8 |
Krithika Murali gene: EXOSC8 was added gene: EXOSC8 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC8 were set to 34210538; 24989451 Phenotypes for gene: EXOSC8 were set to Pontocerebellar hypoplasia, type 1C - MIM#616081 Review for gene: EXOSC8 was set to GREEN Added comment: Severe autosomal recessive neurodegenerative disorder. PMID 24989451 report polyhydramnios, vermis hypoplasia, mega cisterna magna and corpus callosum anomalies in affectd individuals Sources: Literature |