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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