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Cerebellar hypoplasia v1.78 EXOSC8 Arina Puzriakova Classified gene: EXOSC8 as Green List (high evidence)
Cerebellar hypoplasia v1.78 EXOSC8 Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Green on the basis that cerebellar hypoplasia is a significant feature of the disorder associated with biallelic variant in this gene - at least 5 families have been reported.
Cerebellar hypoplasia v1.78 EXOSC8 Arina Puzriakova Gene: exosc8 has been classified as Green List (High Evidence).
Cerebellar hypoplasia v1.77 EXOSC8 Arina Puzriakova Publications for gene: EXOSC8 were set to
Cerebellar hypoplasia v1.76 EXOSC8 Arina Puzriakova Mode of inheritance for gene: EXOSC8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Cerebellar hypoplasia v1.75 EXOSC8 Arina Puzriakova reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24989451, 38017281, 34210538; Phenotypes: Pontocerebellar hypoplasia, type 1C, OMIM:616081; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar hypoplasia v1.75 EXOSC8 Arina Puzriakova Phenotypes for gene: EXOSC8 were changed from Pontocerebellar hypoplasia,type 1C, 616081 to Pontocerebellar hypoplasia, type 1C, OMIM:616081
Cerebellar hypoplasia EXOSC8 Alice Gardham reviewed EXOSC8