Early onset or syndromic epilepsy
Gene: STAG1
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
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
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.
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
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to STAG1.
Source NHS GMS was added to STAG1.
Zornitza Stark: Approximately a third of repor
Gene: stag1 has been classified as Green List (High Evidence).
Gene: stag1 has been classified as Green List (High Evidence).
Publications for gene: STAG1 were set to
Phenotypes for gene: STAG1 were changed from to Mental retardation, autosomal dominant 47 617635
Mode of inheritance for gene: STAG1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Expert Review Amber was added to STAG1. Panel: Genetic Epilepsy Syndromes
STAG1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
STAG1 was created by Sarah Leigh