Activity

Filter

Cancel
Date Panel Item Activity
18 actions
Early onset or syndromic epilepsy v1.191 PDHA1 Rebecca Foulger Source Wessex and West Midlands GLH was added to PDHA1.
Early onset or syndromic epilepsy v1.190 PDHA1 Rebecca Foulger Source NHS GMS was added to PDHA1.
Early onset or syndromic epilepsy v1.189 PDHA1 Rebecca Foulger reviewed gene: PDHA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 PDHA1 Tracy Lester reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27896109; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency, 312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v0.1013 PDHA1 Eleanor Williams Marked gene: PDHA1 as ready
Early onset or syndromic epilepsy v0.1013 PDHA1 Eleanor Williams Added comment: Comment when marking as ready: Sufficient cases.
Early onset or syndromic epilepsy v0.1013 PDHA1 Eleanor Williams Gene: pdha1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1013 PDHA1 Eleanor Williams Classified gene: PDHA1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1013 PDHA1 Eleanor Williams Added comment: Comment on list classification: > 3 cases of patients with variants in this gene with Pyruvate dehydrogenase E1-alpha deficiency and with seizures as part of the phenotype.
Early onset or syndromic epilepsy v0.1013 PDHA1 Eleanor Williams Gene: pdha1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1011 PDHA1 Eleanor Williams Added comment: Comment on mode of inheritance: Heterozygous mutations seen in females showing phenotype.
Early onset or syndromic epilepsy v0.1011 PDHA1 Eleanor Williams Mode of inheritance for gene: PDHA1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v0.1010 PDHA1 Eleanor Williams Added comment: Comment on phenotypes: Siezures are listed as part of the phenotype for X-LINKED LEIGH SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES and INTELLECTUAL DISABILTIY in Gene2Phenotype
Early onset or syndromic epilepsy v0.1010 PDHA1 Eleanor Williams Phenotypes for gene: PDHA1 were changed from to Pyruvate dehydrogenase E1-alpha deficiency 312170; X-LINKED LEIGH SYNDROME; PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES; INTELLECTUAL DISABILTIY
Early onset or syndromic epilepsy v0.1009 PDHA1 Eleanor Williams Publications for gene: PDHA1 were set to
Early onset or syndromic epilepsy v0.1008 PDHA1 Eleanor Williams commented on gene: PDHA1
Early onset or syndromic epilepsy PDHA1 Zornitza Stark reviewed gene: PDHA1
Early onset or syndromic epilepsy PDHA1 Sarah Leigh Added gene to panel