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Cataract v0.121 POMT1 Bryony Thompson Marked gene: POMT1 as ready
Cataract v0.121 POMT1 Bryony Thompson Gene: pomt1 has been classified as Amber List (Moderate Evidence).
Cataract v0.121 POMT1 Bryony Thompson Classified gene: POMT1 as Amber List (moderate evidence)
Cataract v0.121 POMT1 Bryony Thompson Gene: pomt1 has been classified as Amber List (Moderate Evidence).
Cataract v0.120 POMT1 Bryony Thompson reviewed gene: POMT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 17878207, 19299310; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 MIM#236670, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 MIM#613155, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 MIM#609308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.0 POMT1 Zornitza Stark gene: POMT1 was added
gene: POMT1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POMT1 was set to Unknown