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Holoprosencephaly and septo-optic dysplasia v0.12 PPP1R12A Zornitza Stark changed review comment from: Emerging evidence.; to: 12 unrelated individuals now published.
Holoprosencephaly and septo-optic dysplasia v0.12 PPP1R12A Zornitza Stark edited their review of gene: PPP1R12A: Changed rating: GREEN; Changed publications: 31883643
Holoprosencephaly and septo-optic dysplasia v0.5 PPP1R12A Zornitza Stark Marked gene: PPP1R12A as ready
Holoprosencephaly and septo-optic dysplasia v0.5 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.5 PPP1R12A Zornitza Stark Publications for gene: PPP1R12A were set to
Holoprosencephaly and septo-optic dysplasia v0.4 PPP1R12A Zornitza Stark Classified gene: PPP1R12A as Green List (high evidence)
Holoprosencephaly and septo-optic dysplasia v0.4 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.3 PPP1R12A Zornitza Stark Marked gene: PPP1R12A as ready
Holoprosencephaly and septo-optic dysplasia v0.3 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Amber List (Moderate Evidence).
Holoprosencephaly and septo-optic dysplasia v0.3 PPP1R12A Zornitza Stark Phenotypes for gene: PPP1R12A were changed from to Intellectual disability; holoprosencephaly; disorder of sex development
Holoprosencephaly and septo-optic dysplasia v0.2 PPP1R12A Zornitza Stark Mode of inheritance for gene: PPP1R12A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.1 PPP1R12A Zornitza Stark Classified gene: PPP1R12A as Amber List (moderate evidence)
Holoprosencephaly and septo-optic dysplasia v0.1 PPP1R12A Zornitza Stark Gene: ppp1r12a has been classified as Amber List (Moderate Evidence).
Holoprosencephaly and septo-optic dysplasia v0.0 PPP1R12A Zornitza Stark reviewed gene: PPP1R12A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, holoprosencephaly, disorder of sex development; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.0 PPP1R12A Zornitza Stark gene: PPP1R12A was added
gene: PPP1R12A was added to Holoprosencephaly and septo-optic dysplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PPP1R12A was set to Unknown