SMARCA2
Homo sapiens
Gene Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
Aliases: BAF190, BRM, NCBRS, SNF2, SNF2L2, SNF2LA, SWI2, Sth1p, hBRM, hSNF2a
Chromosome No: 9
Chromosome Band: 9p24.3
Genetic Category: Genetic association/functional--Syndromic-Rare single gene variant
Associated Syndrome(s): Coffin-Siris syndrome,Nicolaides-Baraitser syndrome
Aliases: BAF190, BRM, NCBRS, SNF2, SNF2L2, SNF2LA, SWI2, Sth1p, hBRM, hSNF2a
Chromosome No: 9
Chromosome Band: 9p24.3
Genetic Category: Genetic association/functional--Syndromic-Rare single gene variant
Associated Syndrome(s): Coffin-Siris syndrome,Nicolaides-Baraitser syndrome
Summary Statistics:
ASD Reports: 29
Recent Reports: 0
Annotated variants: 45
Associated CNVs: 13
Evidence score: 3
ASD Reports: 29
Recent Reports: 0
Annotated variants: 45
Associated CNVs: 13
Evidence score: 3
| Associated Disorders: |
|
Relevance to Autism
Defects in SMARCA2 are the cause of Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358], a rare disorder characterized by severe mental retardation with absent or limited speech, seizures, short stature, sparse hair, typical facial characteristics, brachydactyly, prominent finger joints and broad distal phalanges. Some individuals with NCBRS have also been formally diagnosed with ASD or have displayed autistic traits (Sousa et al., 2009; Gana et al., 2011; Wolff et al., 2012).
Molecular Function
The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome.
Nicolaides-Baraitser syndrome
ID, Epilepsy, ASD (1/3)
Positive Association
Involvement of SMARCA2/BRM in the SWI/SNF chromatin-remodeling complex in schizophrenia.
SCZ
Support
Variantrecurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense v...
DD
Support
Nicolaides-Baraitser syndrome: Delineation of the phenotype.
Nicolaides-Baraitser syndrome
Support
Autism spectrum disorder and comorbid neurodevelopmental disorders (ASD-NDDs): Clinical and genetic profile of a pediatric cohort
ASD
Epilepsy/seizures
Support
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
ASD
Support
Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.
ASD
ID
Support
Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea
Nicolaides-Baraitser syndrome, DD, epilepsy/seizur
Support
New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy.
Nicolaides-Baraitser syndrome
ASD, ID, epilepsy/seizures
Support
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.
ASD
Support
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
ASD
Support
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
ID
Support
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: experience of two clinical units and 216 patients.
Nicolaides-Baraitser syndrome
Support
Low-level germline mosaicism of a novel SMARCA2 missense variant: Expanding the phenotypic spectrum and mode of genetic transmission
DD, ID, epilepsy/seizures
Autistic features
Support
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
Coffin-Siris syndrome
DD, ID
Support
Complex Diagnostics of Non-Specific Intellectual Developmental Disorder
DD, ID
Autistic features
Support
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
ASD, DD
Support
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing
DD/ID, epilepsy/seizures
Support
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
Nicolaides-Baraitser syndrome
ID
Support
Genomic diagnosis for children with intellectual disability and/or developmental delay.
ID, epilepsy/seizures
Support
Exploring the biological role of postzygotic and germinal de novo mutations in ASD
ASD
Support
Nicolaides-Baraitser syndrome: two new cases with autism spectrum disorder.
Nicolaides-Baraitser syndrome
ASD
Support
Rare variants in the outcome of social skills group training for autism
ASD
Support
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.
Psychomotor retardation
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN731R021
missense_variant
c.553C>G
p.Gln185Glu
De novo (germline mosaicism)
Multiplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN731C001
missense_variant
rs2296212
c.4638C>G
p.Asp1546Glu
Japanese schizophrenic patients (100 in discovery, 576 in replication 1, 1344 in replication 2) and Japanese control individuals (1480 in discovery, 576 in replication 1, 1344 in replication 2).
Discovery and two replication stages
GEN731C002
intron_variant
rs3763627
c.1936-55A>T
Japanese SCZ patients (576 in replication 1, 1344 in replication2) and Japanese control individuals (576 in replication 1, 1344 in replication 2)
Replication stages (1 & 2)
GEN731C003
intron_variant
rs3793490
c.2884-699T>G
Japanese SCZ patients (576 in replication 1, 1344 in replication2) and Japanese control individuals (576 in replication 1, 1344 in replication 2)
Replication stages (1 & 2)
GEN731C004
intron_variant
rs2066111
c.1935+216C>T
Japanese SCZ patients (576 in replication 1, 1344 in replication2) and Japanese control individuals (576 in replication 1, 1344 in replication 2)
Replication stages (1 & 2)
