Early onset or syndromic epilepsy

Gene: SMARCA2

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 Nicolaides-Baraitser syndrome characterised by severe MR, early onset seizures, short stature, dysmorphic facial features and sparse hair. On OMIM clinical information - seizures are reported in over half of the cases (Sous et al, 2009 - 18 patients (1 pair monozygotic twins) - seizures one of main features, Van Houdt et al, 2012 - 34/36 individuals thought to have certain clinical diagnosis - 22/35 had seizures, Mari et al, 2015 - 8 unrelated patients - seizures variable feature). In the Van Houdt et al 2012 paper 36/44 individuals with NCBRS were found to have nonsynonymous SMARCA2 mutations - where parents wsere available they were shown to be de novo.

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
Nicolaides-Baraitser syndrome, 601358

Publications

• 22426308
• 27665729

Green List (high evidence)

Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. In PMID 22366787 22/35 Nicolaides-Baraitser syndrome cases with SMARCA2 variant had seizures as part of their phenotype.
Gene provided by Ian Berry, Leeds
Sources: Expert list

Created: 8 Nov 2018, 3:29 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Nicolaides-Baraitser syndrome 601358

Publications

• 22366787