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DDG2P v3.12 EXOSC9 Achchuthan Shanmugasundram reviewed gene: EXOSC9: Rating: GREEN; Mode of pathogenicity: ; Publications: 29727687; Phenotypes: Cerebellar Atrophy with Spinal Motor Neuronopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.11 EXOSC9 Achchuthan Shanmugasundram Source Expert Review Green was added to EXOSC9.
Mode of inheritance for gene EXOSC9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.38 EXOSC9 Rebecca Foulger reviewed gene: EXOSC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.37 EXOSC9 Rebecca Foulger gene: EXOSC9 was added
gene: EXOSC9 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: EXOSC9 was set to
Publications for gene: EXOSC9 were set to 29727687
Phenotypes for gene: EXOSC9 were set to Cerebellar Atrophy with Spinal Motor Neuronopathy