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Mendeliome v0.13251 PMPCA Zornitza Stark Marked gene: PMPCA as ready
Mendeliome v0.13251 PMPCA Zornitza Stark Gene: pmpca has been classified as Green List (High Evidence).
Mendeliome v0.13251 PMPCA Zornitza Stark Phenotypes for gene: PMPCA were changed from to Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200
Mendeliome v0.13250 PMPCA Zornitza Stark Publications for gene: PMPCA were set to
Mendeliome v0.13249 PMPCA Zornitza Stark Mode of inheritance for gene: PMPCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13248 PMPCA Zornitza Stark reviewed gene: PMPCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25808372, 26657514, 33272776, 30617178; Phenotypes: Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.0 PMPCA Zornitza Stark gene: PMPCA was added
gene: PMPCA was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PMPCA was set to Unknown