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Early onset or syndromic epilepsy v1.191 FKRP Rebecca Foulger Source Wessex and West Midlands GLH was added to FKRP.
Early onset or syndromic epilepsy v1.190 FKRP Rebecca Foulger Source NHS GMS was added to FKRP.
Early onset or syndromic epilepsy v1.189 FKRP Rebecca Foulger reviewed gene: FKRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 FKRP Tracy Lester reviewed gene: FKRP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 613153, Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation) type B, 606612, Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 5, 607155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1275 FKRP Louise Daugherty Marked gene: FKRP as ready
Early onset or syndromic epilepsy v0.1275 FKRP Louise Daugherty Gene: fkrp has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1275 FKRP Louise Daugherty Publications for gene: FKRP were set to 14652796; 234206531; 11741828; 11592034
Early onset or syndromic epilepsy v0.1274 FKRP Louise Daugherty Added comment: Comment on publications: MDC1C is a form of congenital muscular dystrophy with mental retardation and structural brain abnormalities and belongs to a group of disorders resulting from defective glycosylation of dystrophin-associated glycoprotein-1, collectively known as dystroglycanopathies. External expert review notes Green status, but there is not enough evidence to date to asocaited this gene with seizures so I have kept this gene Amber on this panel until further evidence.
Early onset or syndromic epilepsy v0.1274 FKRP Louise Daugherty Publications for gene: FKRP were set to 14652796
Early onset or syndromic epilepsy v0.1266 FKRP Louise Daugherty Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153; seizures; Walker-warburg syndrome or muscle-eye-brain disease to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153; seizures; Walker-warburg syndrome or muscle-eye-brain disease; Muscular dystrophy, congenital, 1c
Early onset or syndromic epilepsy v0.1265 FKRP Louise Daugherty Publications for gene: FKRP were set to
Early onset or syndromic epilepsy v0.1262 FKRP Louise Daugherty Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153; seizures to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153; seizures; Walker-warburg syndrome or muscle-eye-brain disease
Early onset or syndromic epilepsy v0.1261 FKRP Louise Daugherty Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153; seizures
Early onset or syndromic epilepsy v0.1260 FKRP Louise Daugherty Mode of inheritance for gene: FKRP was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.883 FKRP Louise Daugherty Added comment: Comment on phenotypes: added phenotype suggested from external reviewer
Early onset or syndromic epilepsy v0.883 FKRP Louise Daugherty Phenotypes for gene: FKRP were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153
Early onset or syndromic epilepsy FKRP Zornitza Stark reviewed gene: FKRP
Early onset or syndromic epilepsy FKRP Sarah Leigh Added gene to panel