Early onset or syndromic epilepsy

Gene: STAG1

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: John Taylor and Helen Lord. Suggested gene rating: Green.

Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.

Panel Version: 1.189

Green List (high evidence)

AD MR 47. Lehalle et al, 2017 - 17 patients from 16 unrelated families with delayed psychomotor development and ID. 7 patients from 7 unrelated families had seizures ranging from recurrent febrile seizures to epileptic encephalopathy. Variants identifed include partial and whole gene deletions and also missense and 2 fs variants. No functional work done.

Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.

Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation autosomal dominant, 47 617635

Publications

• 28119487

Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. Three missense variants and one copy number event that deletes STAG1 & PCCB genes were reported in four unrelated cases in which seizures were a phenotypic feature.

Created: 3 Dec 2018, 11:11 a.m.

Green List (high evidence)

Approximately a third of reported patients had seizures.

Created: 22 Aug 2018, 5:03 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 47, MIM#617635

Publications

• 28119487

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