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Cataract v0.222 ITPA Zornitza Stark Marked gene: ITPA as ready
Cataract v0.222 ITPA Zornitza Stark Gene: itpa has been classified as Amber List (Moderate Evidence).
Cataract v0.222 ITPA Zornitza Stark Phenotypes for gene: ITPA were changed from to Epileptic encephalopathy, early infantile, 35, MIM# 616647
Cataract v0.221 ITPA Zornitza Stark Publications for gene: ITPA were set to
Cataract v0.220 ITPA Zornitza Stark Mode of inheritance for gene: ITPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.219 ITPA Zornitza Stark Classified gene: ITPA as Amber List (moderate evidence)
Cataract v0.219 ITPA Zornitza Stark Gene: itpa has been classified as Amber List (Moderate Evidence).
Cataract v0.218 ITPA Zornitza Stark reviewed gene: ITPA: Rating: AMBER; Mode of pathogenicity: None; Publications: 26224535, 30816001; Phenotypes: Epileptic encephalopathy, early infantile, 35, MIM# 616647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.0 ITPA Zornitza Stark gene: ITPA was added
gene: ITPA was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ITPA was set to Unknown