06 Aug 2019
Early onset or syndromic epilepsy v1.191
PLAA
Rebecca Foulger Source Wessex and West Midlands GLH was added to PLAA.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
PLAA
Rebecca Foulger Source NHS GMS was added to PLAA.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
PLAA
Rebecca Foulger reviewed gene: PLAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
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
22 Nov 2018
Early onset or syndromic epilepsy v0.1067
PLAA
Eleanor Williams Marked gene: PLAA as ready
22 Nov 2018
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
22 Nov 2018
Early onset or syndromic epilepsy v0.1067
PLAA
Eleanor Williams Gene: plaa has been classified as Green List (High Evidence).
22 Nov 2018
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
22 Nov 2018
Early onset or syndromic epilepsy v0.1066
PLAA
Eleanor Williams Publications for gene: PLAA were set to
22 Nov 2018
Early onset or syndromic epilepsy v0.1064
PLAA
Eleanor Williams Mode of inheritance for gene: PLAA was changed from to BIALLELIC, autosomal or pseudoautosomal
22 Nov 2018
Early onset or syndromic epilepsy v0.1063
PLAA
Eleanor Williams Classified gene: PLAA as Green List (high evidence)
22 Nov 2018
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.
22 Nov 2018
Early onset or syndromic epilepsy v0.1063
PLAA
Eleanor Williams Gene: plaa has been classified as Green List (High Evidence).
22 Nov 2018
Early onset or syndromic epilepsy v0.1062
PLAA
Eleanor Williams commented on gene: PLAA
19 Aug 2018
Early onset or syndromic epilepsy
PLAA
Zornitza Stark reviewed gene: PLAA
25 Jun 2018
Early onset or syndromic epilepsy
PLAA
Sarah Leigh Added gene to panel