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Early onset or syndromic epilepsy v8.112 SPTAN1 Arina Puzriakova Added comment: Comment on phenotypes: OMIM phenotypes accessed on 16-02-2026
Early onset or syndromic epilepsy v8.112 SPTAN1 Arina Puzriakova Phenotypes for gene: SPTAN1 were changed from Developmental and epileptic encephalopathy 5, OMIM:613477; developmental and epileptic encephalopathy, 5, MONDO:0013277 to Developmental and epileptic encephalopathy 5, OMIM:613477; Developmental delay with or without epilepsy, OMIM:620540; Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia, OMIM:620538
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
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
Early onset or syndromic epilepsy v1.191 SPTAN1 Rebecca Foulger Source Wessex and West Midlands GLH was added to SPTAN1.
Early onset or syndromic epilepsy v1.190 SPTAN1 Rebecca Foulger Source NHS GMS was added to SPTAN1.
Early onset or syndromic epilepsy v1.189 SPTAN1 Rebecca Foulger reviewed gene: SPTAN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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
Early onset or syndromic epilepsy SPTAN1 Sarah Leigh Added gene to panel