06 Aug 2019
Early onset or syndromic epilepsy v1.191
SLC45A1
Rebecca Foulger Source Wessex and West Midlands GLH was added to SLC45A1.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
SLC45A1
Rebecca Foulger Source NHS GMS was added to SLC45A1.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
SLC45A1
Rebecca Foulger reviewed gene: SLC45A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
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
11 Dec 2018
Early onset or syndromic epilepsy v0.1543
SLC45A1
Sarah Leigh Marked gene: SLC45A1 as ready
11 Dec 2018
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.
11 Dec 2018
Early onset or syndromic epilepsy v0.1543
SLC45A1
Sarah Leigh Gene: slc45a1 has been classified as Amber List (Moderate Evidence).
11 Dec 2018
Early onset or syndromic epilepsy v0.1541
SLC45A1
Sarah Leigh Tag watchlist tag was added to gene: SLC45A1.
11 Dec 2018
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
11 Dec 2018
Early onset or syndromic epilepsy v0.1539
SLC45A1
Sarah Leigh Mode of inheritance for gene: SLC45A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
11 Dec 2018
Early onset or syndromic epilepsy v0.1536
SLC45A1
Sarah Leigh Publications for gene: SLC45A1 were set to
21 Aug 2018
Early onset or syndromic epilepsy
SLC45A1
Zornitza Stark reviewed gene: SLC45A1
25 Jun 2018
Early onset or syndromic epilepsy
SLC45A1
Sarah Leigh Added gene to panel