Activity

Filter

Cancel
Date Panel Item Activity
15 actions
Early onset or syndromic epilepsy v1.191 POMT1 Rebecca Foulger Source Wessex and West Midlands GLH was added to POMT1.
Early onset or syndromic epilepsy v1.190 POMT1 Rebecca Foulger Source NHS GMS was added to POMT1.
Early onset or syndromic epilepsy v1.189 POMT1 Rebecca Foulger reviewed gene: POMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 POMT1 Tracy Lester reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19299310; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), 236670, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), 613155, Muscular dystrophy-dystroglycanopathy (limb-girdle), 60930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1400 POMT1 Eleanor Williams Marked gene: POMT1 as ready
Early onset or syndromic epilepsy v0.1400 POMT1 Eleanor Williams Gene: pomt1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1400 POMT1 Eleanor Williams Phenotypes for gene: POMT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670
Early onset or syndromic epilepsy v0.1399 POMT1 Eleanor Williams Publications for gene: POMT1 were set to
Early onset or syndromic epilepsy v0.1398 POMT1 Eleanor Williams Mode of inheritance for gene: POMT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1397 POMT1 Eleanor Williams Classified gene: POMT1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1397 POMT1 Eleanor Williams Added comment: Comment on list classification: >3 cases of variants in this gene in patients with a relevant phenotype. £ patients reported with seizures.
Early onset or syndromic epilepsy v0.1397 POMT1 Eleanor Williams Gene: pomt1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1396 POMT1 Eleanor Williams commented on gene: POMT1
Early onset or syndromic epilepsy POMT1 Zornitza Stark reviewed gene: POMT1
Early onset or syndromic epilepsy POMT1 Sarah Leigh Added gene to panel