Early onset or syndromic epilepsy

Gene: SLC45A1

I don't know

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

I don't know

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

• 28434495

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.

I don't know

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

• 28434495
• 27431290

Variants in this GENE are reported as part of current diagnostic practice