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Early onset or syndromic epilepsy v1.191 SLC1A4 Rebecca Foulger Source Wessex and West Midlands GLH was added to SLC1A4.
Early onset or syndromic epilepsy v1.190 SLC1A4 Rebecca Foulger Source NHS GMS was added to SLC1A4.
Early onset or syndromic epilepsy v1.189 SLC1A4 Rebecca Foulger reviewed gene: SLC1A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 SLC1A4 Tracy Lester reviewed gene: SLC1A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 26138499, 26041762 ; Phenotypes: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.462 SLC1A4 Sarah Leigh Marked gene: SLC1A4 as ready
Early onset or syndromic epilepsy v0.462 SLC1A4 Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. Single variant originally only recorded in cases with Ashkenazi Jewish heritage, this variant and at least two others have now been reported in additional unrelated cases from other populations.
Early onset or syndromic epilepsy v0.462 SLC1A4 Sarah Leigh Gene: slc1a4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.462 SLC1A4 Sarah Leigh Classified gene: SLC1A4 as Green List (high evidence)
Early onset or syndromic epilepsy v0.462 SLC1A4 Sarah Leigh Gene: slc1a4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.461 SLC1A4 Sarah Leigh Phenotypes for gene: SLC1A4 were changed from Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657 to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657
Early onset or syndromic epilepsy SLC1A4 Zornitza Stark Added gene to panel