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Genetic epilepsy syndromes

Gene: SMARCA2

Green List (high evidence)

SMARCA2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2)
EnsemblGeneIds (GRCh38): ENSG00000080503
EnsemblGeneIds (GRCh37): ENSG00000080503
OMIM: 600014, Gene2Phenotype
SMARCA2 is in 5 panels

3 reviews

Rebecca Foulger (Genomics England curator)

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

Tracy Lester (Genetics laboratory, Oxford UK)

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

Sarah Leigh (Genomics England Curator)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Nicolaides-Baraitser syndrome 601358
OMIM
600014
Clinvar variants
Variants in SMARCA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to SMARCA2.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to SMARCA2.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

8 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: smarca2 has been classified as Green List (High Evidence).

8 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: smarca2 has been classified as Green List (High Evidence).

8 Nov 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

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