01 Apr 2021
Early onset or syndromic epilepsy v2.313
ALDH5A1
Sarah Leigh Publications for gene: ALDH5A1 were set to
01 Apr 2021
Early onset or syndromic epilepsy v2.312
ALDH5A1
Sarah Leigh Phenotypes for gene: ALDH5A1 were changed from Succinic semialdehyde dehydrogenase deficiency 271980 to Succinic semialdehyde dehydrogenase deficiency OMIM:271980; succinic semialdehyde dehydrogenase deficiency MONDO:0010083
06 Aug 2019
Early onset or syndromic epilepsy v1.191
ALDH5A1
Rebecca Foulger Source Wessex and West Midlands GLH was added to ALDH5A1.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
ALDH5A1
Rebecca Foulger Source NHS GMS was added to ALDH5A1.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
ALDH5A1
Rebecca Foulger reviewed gene: ALDH5A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
ALDH5A1
Tracy Lester reviewed gene: ALDH5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 14635103; Phenotypes: Succinic semialdehyde dehydrogenase deficiency, 271980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
16 Jul 2018
Early onset or syndromic epilepsy
ALDH5A1
Sarah Leigh marked gene: ALDH5A1 as ready
16 Jul 2018
Early onset or syndromic epilepsy
ALDH5A1
Sarah Leigh classified ALDH5A1 as Green List (high evidence)
04 Jul 2018
Early onset or syndromic epilepsy
ALDH5A1
Arianna Tucci reviewed gene: ALDH5A1
25 Jun 2018
Early onset or syndromic epilepsy
ALDH5A1
Sarah Leigh Added gene to panel