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Early onset or syndromic epilepsy v1.191 PLAA Rebecca Foulger Source Wessex and West Midlands GLH was added to PLAA.
Early onset or syndromic epilepsy v1.190 PLAA Rebecca Foulger Source NHS GMS was added to PLAA.
Early onset or syndromic epilepsy v1.189 PLAA Rebecca Foulger reviewed gene: PLAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 PLAA Tracy Lester reviewed gene: PLAA: Rating: GREEN; Mode of pathogenicity: ; Publications: 28007986, 28413018 ; Phenotypes: Neurodevelopmental disorder with progressive microcephaly spasticity and brain anomalies, 617527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1067 PLAA Eleanor Williams Marked gene: PLAA as ready
Early onset or syndromic epilepsy v0.1067 PLAA Eleanor Williams Added comment: Comment when marking as ready: Sufficient cases for disease association, >3 cases with seizures
Early onset or syndromic epilepsy v0.1067 PLAA Eleanor Williams Gene: plaa has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1067 PLAA Eleanor Williams Phenotypes for gene: PLAA were changed from to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 617527; Lethal Infantile Epileptic Encephalopathy
Early onset or syndromic epilepsy v0.1066 PLAA Eleanor Williams Publications for gene: PLAA were set to
Early onset or syndromic epilepsy v0.1064 PLAA Eleanor Williams Mode of inheritance for gene: PLAA was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1063 PLAA Eleanor Williams Classified gene: PLAA as Green List (high evidence)
Early onset or syndromic epilepsy v0.1063 PLAA Eleanor Williams Added comment: Comment on list classification: 3 variants found in 5 families (but two families likely to have common ancestral haplotype). Seizures reported in all families.
Early onset or syndromic epilepsy v0.1063 PLAA Eleanor Williams Gene: plaa has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1062 PLAA Eleanor Williams commented on gene: PLAA
Early onset or syndromic epilepsy PLAA Zornitza Stark reviewed gene: PLAA
Early onset or syndromic epilepsy PLAA Sarah Leigh Added gene to panel