Gene: SMC1A

Alternate names for this Gene: CDLS2|DXS423E|EIEE85|SB1.8|SMC1|SMC1L1|SMC1alpha|SMCB

Gene Summary: Proper cohesion of sister chromatids is a prerequisite for the correct segregation of chromosomes during cell division. The cohesin multiprotein complex is required for sister chromatid cohesion. This complex is composed partly of two structural maintenance of chromosomes (SMC) proteins, SMC3 and either SMC1B or the protein encoded by this gene. Most of the cohesin complexes dissociate from the chromosomes before mitosis, although those complexes at the kinetochore remain. Therefore, the encoded protein is thought to be an important part of functional kinetochores. In addition, this protein interacts with BRCA1 and is phosphorylated by ATM, indicating a potential role for this protein in DNA repair. This gene, which belongs to the SMC gene family, is located in an area of the X-chromosome that escapes X inactivation. Mutations in this gene result in Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: X

Location in Chromosome : Xp11.22

Description of this Gene: structural maintenance of chromosomes 1A

Type of Gene: protein-coding

rs122454122 in SMC1A gene and Congenital muscular hypertrophy-cerebral syndrome PMID 17273969 2007 Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.

PMID 17221863 2007 Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.

PMID 20358602 2010 Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.

PMID 18996922 2009 Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.

PMID 20635401 2010 Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.

PMID 19701948 2009 SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.

PMID 24124034 2013 Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.

PMID 16604071 2006 X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

PMID 30158690 2019 Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

PMID 25125236 2014 Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 26386245 2015 Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.

rs1556886034 in SMC1A gene and Dysmorphic features PMID 26752331 2016 De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.

PMID 7757074 1995 The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes.

PMID 26386245 2015 Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.

PMID 26358754 2015 Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.

PMID 28102598 2017 Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome.

PMID 26354354 2015 Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing.

PMID 17221863 2007 Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.

PMID 20635401 2010 Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.

PMID 22106055 2012 In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 25537356 2015 Clinical utility gene card for: Cornelia de Lange syndrome.

PMID 23106691 2012 Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes.

PMID 17273969 2007 Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.

PMID 19842212 2010 Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.

PMID 16604071 2006 X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

PMID 28548707 2017 Phenotypes and genotypes in individuals with SMC1A variants.

rs387906702 in SMC1A gene and Movement Disorders PMID 28548707 2017 Phenotypes and genotypes in individuals with SMC1A variants.

PMID 19842212 2010 Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.

PMID 26752331 2016 De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.

PMID 26386245 2015 Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 23106691 2012 Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes.

PMID 28102598 2017 Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome.

PMID 20635401 2010 Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.

PMID 25537356 2015 Clinical utility gene card for: Cornelia de Lange syndrome.

PMID 26358754 2015 Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.

PMID 16604071 2006 X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

PMID 22106055 2012 In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome.

PMID 26354354 2015 Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing.

PMID 17221863 2007 Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.

PMID 17273969 2007 Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.

PMID 7757074 1995 The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes.

rs1556886034 in SMC1A gene and Multiple congenital anomalies PMID 17273969 2007 Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.

PMID 28548707 2017 Phenotypes and genotypes in individuals with SMC1A variants.

PMID 16604071 2006 X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

PMID 28102598 2017 Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome.

PMID 26386245 2015 Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.

PMID 26354354 2015 Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing.

PMID 7757074 1995 The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes.

PMID 26752331 2016 De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.

PMID 26358754 2015 Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.

PMID 17221863 2007 Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.

PMID 22106055 2012 In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 20635401 2010 Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.

PMID 19842212 2010 Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.

PMID 23106691 2012 Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes.

PMID 25537356 2015 Clinical utility gene card for: Cornelia de Lange syndrome.

rs1556886034 in SMC1A gene and Muscle hypotonia PMID 7757074 1995 The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes.

PMID 26386245 2015 Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.

PMID 26354354 2015 Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing.

PMID 28548707 2017 Phenotypes and genotypes in individuals with SMC1A variants.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 22106055 2012 In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome.

PMID 23106691 2012 Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes.

PMID 28102598 2017 Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome.

PMID 26752331 2016 De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.

PMID 25537356 2015 Clinical utility gene card for: Cornelia de Lange syndrome.

PMID 26358754 2015 Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.

PMID 17221863 2007 Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.

PMID 19842212 2010 Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.

PMID 20635401 2010 Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.

PMID 16604071 2006 X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

PMID 17273969 2007 Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.