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Prepair 1000+ v1.1714 POLR3A Zornitza Stark Marked gene: POLR3A as ready
Prepair 1000+ v1.1714 POLR3A Zornitza Stark Gene: polr3a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1714 POLR3A Zornitza Stark Phenotypes for gene: POLR3A were changed from Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (3) to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694; Wiedemann-Rautenstrauch syndrome, MIM# 264090
Prepair 1000+ v1.1713 POLR3A Zornitza Stark Publications for gene: POLR3A were set to
Prepair 1000+ v1.1566 POLR3A Lauren Thomas reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31637490, 21855841, 38561452; Phenotypes: Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694, Wiedemann-Rautenstrauch syndrome, MIM# 264090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.0 POLR3A Zornitza Stark gene: POLR3A was added
gene: POLR3A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (3)