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Early onset or syndromic epilepsy v1.191 SLC45A1 Rebecca Foulger Source Wessex and West Midlands GLH was added to SLC45A1.
Early onset or syndromic epilepsy v1.190 SLC45A1 Rebecca Foulger Source NHS GMS was added to SLC45A1.
Early onset or syndromic epilepsy v1.189 SLC45A1 Rebecca Foulger reviewed gene: SLC45A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 SLC45A1 Tracy Lester reviewed gene: SLC45A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28434495; Phenotypes: Intellectual developmental disorder with neuropsychiatric features, 617532; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1543 SLC45A1 Sarah Leigh Marked gene: SLC45A1 as ready
Early onset or syndromic epilepsy v0.1543 SLC45A1 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least three homozygous variants reported in three unrelated cases, however, seizures were only a phenotypic feature in two of the unrelated cases.
Early onset or syndromic epilepsy v0.1543 SLC45A1 Sarah Leigh Gene: slc45a1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1541 SLC45A1 Sarah Leigh Tag watchlist tag was added to gene: SLC45A1.
Early onset or syndromic epilepsy v0.1540 SLC45A1 Sarah Leigh Phenotypes for gene: SLC45A1 were changed from to Intellectual developmental disorder with neuropsychiatric features 617532
Early onset or syndromic epilepsy v0.1539 SLC45A1 Sarah Leigh Mode of inheritance for gene: SLC45A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1536 SLC45A1 Sarah Leigh Publications for gene: SLC45A1 were set to
Early onset or syndromic epilepsy SLC45A1 Zornitza Stark reviewed gene: SLC45A1
Early onset or syndromic epilepsy SLC45A1 Sarah Leigh Added gene to panel