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Mendeliome v0.8928 PDE6D Zornitza Stark edited their review of gene: PDE6D: Changed publications: 30423442, 24166846
Mendeliome v0.8928 PDE6D Zornitza Stark Classified gene: PDE6D as Green List (high evidence)
Mendeliome v0.8928 PDE6D Zornitza Stark Gene: pde6d has been classified as Green List (High Evidence).
Mendeliome v0.8927 PDE6D Zornitza Stark changed review comment from: Comment when marking as ready: Second family identified in the literature.; to: Comment when marking as ready: Second family identified in the literature. Good functional data.
Mendeliome v0.8927 PDE6D Zornitza Stark edited their review of gene: PDE6D: Changed rating: GREEN
Mendeliome v0.588 PDE6D Zornitza Stark Marked gene: PDE6D as ready
Mendeliome v0.588 PDE6D Zornitza Stark Added comment: Comment when marking as ready: Second family identified in the literature.
Mendeliome v0.588 PDE6D Zornitza Stark Gene: pde6d has been classified as Amber List (Moderate Evidence).
Mendeliome v0.588 PDE6D Zornitza Stark Phenotypes for gene: PDE6D were changed from to Joubert syndrome 22, OMIM #615665
Mendeliome v0.587 PDE6D Zornitza Stark Publications for gene: PDE6D were set to 24166846
Mendeliome v0.586 PDE6D Zornitza Stark Classified gene: PDE6D as Amber List (moderate evidence)
Mendeliome v0.586 PDE6D Zornitza Stark Gene: pde6d has been classified as Amber List (Moderate Evidence).
Mendeliome v0.585 PDE6D Zornitza Stark Publications for gene: PDE6D were set to 24166846
Mendeliome v0.584 PDE6D Zornitza Stark Publications for gene: PDE6D were set to
Mendeliome v0.583 PDE6D Zornitza Stark Mode of inheritance for gene: PDE6D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.582 PDE6D Zornitza Stark Classified gene: PDE6D as Red List (low evidence)
Mendeliome v0.582 PDE6D Zornitza Stark Gene: pde6d has been classified as Red List (Low Evidence).
Mendeliome v0.581 PDE6D Zornitza Stark reviewed gene: PDE6D: Rating: RED; Mode of pathogenicity: None; Publications: 24166846; Phenotypes: Joubert syndrome 22, OMIM #615665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.0 PDE6D Zornitza Stark gene: PDE6D was added
gene: PDE6D was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PDE6D was set to Unknown