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Early onset or syndromic epilepsy v1.191 POMGNT1 Rebecca Foulger Source Wessex and West Midlands GLH was added to POMGNT1.
Early onset or syndromic epilepsy v1.190 POMGNT1 Rebecca Foulger Source NHS GMS was added to POMGNT1.
Early onset or syndromic epilepsy v1.189 POMGNT1 Rebecca Foulger reviewed gene: POMGNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 POMGNT1 Tracy Lester reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15466003; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3 253280, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation)type B, 3 613151, Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 3 613157 , Retinitis pigmentosa 76 617123; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1391 POMGNT1 Eleanor Williams Marked gene: POMGNT1 as ready
Early onset or syndromic epilepsy v0.1391 POMGNT1 Eleanor Williams Gene: pomgnt1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1391 POMGNT1 Eleanor Williams Phenotypes for gene: POMGNT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280
Early onset or syndromic epilepsy v0.1390 POMGNT1 Eleanor Williams Mode of inheritance for gene: POMGNT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1389 POMGNT1 Eleanor Williams Publications for gene: POMGNT1 were set to
Early onset or syndromic epilepsy v0.1388 POMGNT1 Eleanor Williams Classified gene: POMGNT1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1388 POMGNT1 Eleanor Williams Added comment: Comment on list classification: > 3 cases with variants in this gene and seizures so rating green.
Early onset or syndromic epilepsy v0.1388 POMGNT1 Eleanor Williams Gene: pomgnt1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1387 POMGNT1 Eleanor Williams commented on gene: POMGNT1
Early onset or syndromic epilepsy POMGNT1 Zornitza Stark reviewed gene: POMGNT1
Early onset or syndromic epilepsy POMGNT1 Sarah Leigh Added gene to panel