Early onset or syndromic epilepsy
Gene: SLC45A1
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Amber.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Insufficient evidence. PMID 28434495 report two siblings from two consanguinous families where features included epilepsy, although one individual had only two seizures in the first 12 months of life and none thereafter.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual developmental disorder with neuropsychiatric features, 617532
Publications
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.Created: 11 Dec 2018, 1:56 p.m.
Seizures are part of the phenotype of this neurodevelopmental disorder.Created: 21 Aug 2018, 9:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual developmental disorder with neuropsychiatric features, MIM#617532
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to SLC45A1.
Source NHS GMS was added to SLC45A1.
Zornitza Stark: Seizures are part of the pheno
Gene: slc45a1 has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: SLC45A1.
Phenotypes for gene: SLC45A1 were changed from to Intellectual developmental disorder with neuropsychiatric features 617532
Mode of inheritance for gene: SLC45A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC45A1 were set to
Expert Review Amber was added to SLC45A1. Panel: Genetic Epilepsy Syndromes
SLC45A1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
SLC45A1 was created by Sarah Leigh