Early onset or syndromic epilepsy
Gene: SMARCA2
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 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
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 listCreated: 8 Nov 2018, 3:29 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Nicolaides-Baraitser syndrome 601358
Publications
Source Wessex and West Midlands GLH was added to SMARCA2.
Source NHS GMS was added to SMARCA2.
Sarah Leigh: Associated with relevant pheno
Gene: smarca2 has been classified as Green List (High Evidence).
Gene: smarca2 has been classified as Green List (High Evidence).
gene: SMARCA2 was added gene: SMARCA2 was added to Genetic Epilepsy Syndromes. Sources: Expert list Mode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMARCA2 were set to 22366787 Phenotypes for gene: SMARCA2 were set to Nicolaides-Baraitser syndrome 601358 Review for gene: SMARCA2 was set to GREEN