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Early onset or syndromic epilepsy v1.191 POMT2 Rebecca Foulger Source Wessex and West Midlands GLH was added to POMT2.
Early onset or syndromic epilepsy v1.190 POMT2 Rebecca Foulger Source NHS GMS was added to POMT2.
Early onset or syndromic epilepsy v1.189 POMT2 Rebecca Foulger reviewed gene: POMT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 POMT2 Tracy Lester reviewed gene: POMT2: Rating: RED; Mode of pathogenicity: ; Publications: 17878207; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 613150, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation) , 613156, Muscular dystrophy-dystroglycanopathy (limb-girdle), 613158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.481 POMT2 Sarah Leigh Marked gene: POMT2 as ready
Early onset or syndromic epilepsy v0.481 POMT2 Sarah Leigh Gene: pomt2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.481 POMT2 Sarah Leigh Phenotypes for gene: POMT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150
Early onset or syndromic epilepsy v0.480 POMT2 Sarah Leigh Added comment: Comment on phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150
Early onset or syndromic epilepsy v0.480 POMT2 Sarah Leigh Phenotypes for gene: POMT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150
Early onset or syndromic epilepsy v0.472 POMT2 Sarah Leigh Mode of inheritance for gene: POMT2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.471 POMT2 Sarah Leigh Marked gene: POMT2 as ready
Early onset or syndromic epilepsy v0.471 POMT2 Sarah Leigh Gene: pomt2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy POMT2 Zornitza Stark reviewed gene: POMT2
Early onset or syndromic epilepsy POMT2 Sarah Leigh Added gene to panel