SMARCA2 gene related symptoms and diseases
All the information presented here about the SMARCA2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SMARCA2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Absence seizures | Very Common - Between 80% and 100% cases |
| Short metatarsal | Very Common - Between 80% and 100% cases |
| Abnormality of the metacarpal bones | Very Common - Between 80% and 100% cases |
| Mutism | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SMARCA2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Drooling
- Widely spaced teeth
- Sandal gap
- Accelerated skeletal maturation
- Narrow palpebral fissure
- Joint dislocation
- Low anterior hairline
- Cone-shaped epiphysis
And 87 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SMARCA2 gene
Here you will find a list of rare diseases related to the SMARCA2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME
Alternate names
INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME Is also known as sparse hair and mental retardation, nbs, nicolaides-baraitser syndrome
Description
Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.
Most common symptoms of INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME
Search interest in SMARCA2
Potential gene panels for SMARCA2 gene
Coffin-Siris Syndrome Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Coffin-Siris Syndrome Panel that also includes the following genes: SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 BTD HDAC8 ADNP
More info about this panel United States.
Cornelia de Lange Syndrome PLUS Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Cornelia de Lange Syndrome PLUS Sequencing Panel that also includes the following genes: ROR2 SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 WNT5A HDAC8
More info about this panel United States.
Coffin-Siris syndrome Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Coffin-Siris syndrome Sequencing Panel that also includes the following genes: SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SOX11 ADNP ARID1B PHF6 ANKRD11
More info about this panel United States.
SMARCA2 sequencing Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the SMARCA2 gene.
More info about this panel United States.
SMARCA2 deletion/duplication analysis Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the SMARCA2 gene.
More info about this panel United States.
Coffin-Siris syndrome Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Coffin-Siris syndrome Deletion/Duplication Panel that also includes the following genes: SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SOX11 ADNP ARID1B PHF6 ANKRD11
More info about this panel United States.
Cornelia de Lange PLUS Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Cornelia de Lange PLUS Deletion/Duplication Panel that also includes the following genes: ROR2 SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 WNT5A HDAC8
More info about this panel United States.
CustomNext: Neuro Panel
United States.
By Ambry Genetics CustomNext: Neuro that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panel United States.
Neurodevelopment-Expanded Panel
United States.
By Ambry Genetics Neurodevelopment-Expanded that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panel United States.
IDNext Panel
United States.
By Ambry Genetics IDNext that also includes the following genes: RPL10 RPS6KA3 SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMARCA2
More info about this panel United States.
SMARCA2 mutation analysis Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the SMARCA2 gene.
More info about this panel Netherlands.
SMARCA2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SMARCA2 gene.
More info about this panel Spain.
Nicolaides-Baraitser syndrome (sequence analysis of SMARCA2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SMARCA2 gene.
More info about this panel Portugal.
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection that also includes the following genes: RORB SCN10A SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC17A5
More info about this panel United States.
Coffin-Siris syndrome Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Coffin-Siris syndrome that also includes the following genes: SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A ARID1B PHF6
More info about this panel Germany.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
Nicolaides-Baraitser syndrome Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the SMARCA2 gene.
More info about this panel Germany.
Coffin-Siris and Nicolaides-Baraitser Syndrome (CSS, NCBRS) Panel
Germany.
By MGZ Medical Genetics Center Coffin-Siris and Nicolaides-Baraitser Syndrome (CSS, NCBRS) that also includes the following genes: SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A ARID1B PHF6
More info about this panel Germany.
Mental Retardation and Dysmorphology - panels Panel
Germany.
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
Syndromal Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
Brain Malformations / Neuronal Migration Disorders Panel
Germany.
By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panel Germany.
Nicolaides Baraitser syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SMARCA2 gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Selected Genetic Syndromes with Seizures Panel Panel
Germany.
By CeGaT GmbH Selected Genetic Syndromes with Seizures Panel that also includes the following genes: SMARCA2 MED12 TSC1 TSC2 KDM6A NSD1 ZEB2 VPS13A PIGO GNE
More info about this panel Germany.
Epilepsy Panel
Estonia.
By Asper Biogene Asper Biogene LLC Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 ST3GAL5 SLC35A2 SLC35A3 SLC6A1 SLC6A8
More info about this panel Estonia.
SMARCA2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SMARCA2 gene.
More info about this panel United States.
Comprehensive Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panel United States.
Nicolaides-Baraitser syndrome Panel
Spain.
By Bioarray
This panel specifically test the SMARCA2 gene.
More info about this panel Spain.
NICOLAIDES-BARAITSER SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the SMARCA2 gene.
More info about this panel Spain.
COFFIN-SIRIS SYNDROME NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL COFFIN-SIRIS SYNDROME NGS PANEL that also includes the following genes: SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SOX11 ARID1B PHF6
More info about this panel Spain.
Nicolaides-Baraitser Syndrome , Sequencing SMARCA2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SMARCA2 gene.
More info about this panel Spain.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
Nicolaides-Baraitser Syndrome: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the SMARCA2 gene.
More info about this panel Canada.
Nicolaides-Baraitser Syndrome: gene deletion/duplication Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the SMARCA2 gene.
More info about this panel Canada.
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