23 Mar 2023
Early onset or syndromic epilepsy v4.3
SPTAN1
Sarah Leigh Phenotypes for gene: SPTAN1 were changed from Epileptic encephalopathy, early infantile, 5 to Developmental and epileptic encephalopathy 5, OMIM:613477; developmental and epileptic encephalopathy, 5, MONDO:0013277
23 Mar 2023
Early onset or syndromic epilepsy v4.2
SPTAN1
Sarah Leigh Publications for gene: SPTAN1 were set to Saitsu et al (2010) Am J Hum Genet 86: 881_891
06 Aug 2019
Early onset or syndromic epilepsy v1.191
SPTAN1
Rebecca Foulger Source Wessex and West Midlands GLH was added to SPTAN1.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
SPTAN1
Rebecca Foulger Source NHS GMS was added to SPTAN1.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
SPTAN1
Rebecca Foulger reviewed gene: SPTAN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
SPTAN1
Tracy Lester reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20493457, 22258530 ; Phenotypes: Epileptic encephalopathy, early infantile, 613477; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
04 Apr 2018
Early onset or syndromic epilepsy
SPTAN1
Sarah Leigh Added gene to panel