SMARCB1 gene related symptoms and diseases
All the information presented here about the SMARCB1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SMARCB1 gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Uncommon - Between 30% and 50% cases |
Intellectual disability | Rare - less than 30% cases |
Intrauterine growth retardation | Rare - less than 30% cases |
Cafe-au-lait spot | Rare - less than 30% cases |
Neurofibromas | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with SMARCB1 gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Meningioma
- Bilateral vestibular Schwannoma
- Neoplasm
- Schwannoma
- Long eyelashes
- Thick eyebrow
- Wide mouth
- Coarse facial features
And 109 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SMARCB1 gene
Here you will find a list of rare diseases related to the SMARCB1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
COFFIN-SIRIS SYNDROME
Alternate names
COFFIN-SIRIS SYNDROME Is also known as css
Description
Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.
Most common symptoms of COFFIN-SIRIS SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
More info about COFFIN-SIRIS SYNDROME
SOURCES: ORPHANET
COFFIN-SIRIS SYNDROME 3; CSS3
Alternate names
COFFIN-SIRIS SYNDROME 3; CSS3 Is also known as mrd15, mental retardation, autosomal dominant 15
Description
Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCB1 mutations may have more severe neurodevelopmental deficits including severe intellectual disability, brain structural abnormalities, and no expressive words, as well as scoliosis (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).
Most common symptoms of COFFIN-SIRIS SYNDROME 3; CSS3
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about COFFIN-SIRIS SYNDROME 3; CSS3
SOURCES: OMIM
NEUROFIBROMATOSIS TYPE 3
Alternate names
NEUROFIBROMATOSIS TYPE 3 Is also known as neurilemmomatosis, nf3, nf iii, neurofibromatosis, type iii, riccardi type, neurofibromatosis, type iii, of riccardi, schwannomatosis
Description
Neurofibromatosis (NF) type 3 (NF3), also known as schwannomatosis, is the least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium.
Most common symptoms of NEUROFIBROMATOSIS TYPE 3
- Cafe-au-lait spot
- Neurofibromas
- Freckling
- Meningioma
- Lisch nodules
More info about NEUROFIBROMATOSIS TYPE 3
SCHWANNOMATOSIS 1; SWNTS1
Alternate names
SCHWANNOMATOSIS 1; SWNTS1 Is also known as neurilemmomatosis, congenital cutaneous
Description
Schwannomatosis, also known as neurilemmomatosis, first reported by Niimura (1973) as neurofibromatosis type 3, is characterized by multiple cutaneous neurilemmomas and spinal schwannomas, without acoustic tumors or other signs of neurofibromatosis I (NF1 ) or neurofibromatosis II (NF2 ). In neurilemmomas, the tumor consists of Schwann cells. Some patients may develop meningiomas (van den Munckhof et al., 2012).
Most common symptoms of SCHWANNOMATOSIS 1; SWNTS1
- Neoplasm
- Abnormality of the skin
- Cafe-au-lait spot
- Neoplasm of the skin
- Neurofibromas
More info about SCHWANNOMATOSIS 1; SWNTS1
SOURCES: OMIM
RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1
Alternate names
RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1 Is also known as brain tumor, posterior fossa, of infancy, familial
Description
The rhabdoid tumor predisposition syndrome is an autosomal dominant cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors (Sevenet et al., 1999).Rhabdoid tumors are a highly malignant group of neoplasms that usually occur in children less than 2 years of age. Malignant rhabdoid tumors (MRTs) of the kidney were first described as a sarcomatous variant of Wilms tumors (Beckwith and Palmer, 1978). Later, extrarenal rhabdoid tumor was reported in numerous locations, including the central nervous system (CNS) (Parham et al., 1994). Classification has been difficult because of considerable variation in the histologic and immunologic characteristics within and between rhabdoid tumors of the liver, soft tissues, and CNS. In the CNS, rhabdoid tumors may be pure rhabdoid tumors or a variant that has been designated atypical teratoid tumor (AT/RT).
Most common symptoms of RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1
- Neoplasm
- Carcinoma
- Confusion
- Sarcoma
- Neuroblastoma
More info about RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1
SOURCES: OMIM
FAMILIAL RHABDOID TUMOR
Alternate names
FAMILIAL RHABDOID TUMOR Is also known as rhabdoid tumor predisposition syndrome, rtps
More info about FAMILIAL RHABDOID TUMOR
SOURCES: ORPHANET
FAMILIAL MULTIPLE MENINGIOMA
Description
Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic.
More info about FAMILIAL MULTIPLE MENINGIOMA
SOURCES: ORPHANET
ATYPICAL TERATOID RHABDOID TUMOR
Alternate names
ATYPICAL TERATOID RHABDOID TUMOR Is also known as atrt
Description
Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT; see this term) found almost exclusively in children.
Most common symptoms of ATYPICAL TERATOID RHABDOID TUMOR
- Seizures
- Ataxia
- Muscle weakness
- Macrocephaly
- Hydrocephalus
More info about ATYPICAL TERATOID RHABDOID TUMOR
SOURCES: ORPHANET
Search interest in SMARCB1
Potential gene panels for SMARCB1 gene
Coffin-Siris Syndrome Panel Panel
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 panelVistaSeq Brain/CNS/PNS Cancer Panel Panel
By Molecular Diagnostic Laboratory University of Alberta VistaSeq Brain/CNS/PNS Cancer Panel that also includes the following genes: SMARCB1 TP53 VHL SUFU ALK APC MEN1 MLH1 MSH2 MSH6
More info about this panelSMARCB1 Sequencing Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the SMARCB1 gene.
More info about this panelCornelia de Lange Syndrome PLUS Sequencing Panel Panel
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 panelNon-Specific Intellectual Disability Panel Panel
By Genetic Services Laboratory University of Chicago Non-Specific Intellectual Disability Panel that also includes the following genes: RPS6KA3 CLIP1 SCN2A ST3GAL3 SLC16A2 SLC25A1 SLC6A8 SLC9A6 SMARCA4 SMARCB1
More info about this panelCoffin-Siris syndrome Sequencing Panel Panel
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 panelCoffin-Siris syndrome Deletion/Duplication Panel Panel
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 panelCornelia de Lange PLUS Deletion/Duplication Panel Panel
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 panelHereditary Cancer Panel, Sequencing and Deletion/Duplication Panel
By ARUP Laboratories, Molecular Genetics and Genomics Hereditary Cancer Panel, Sequencing and Deletion/Duplication that also includes the following genes: SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 EPCAM TP53
More info about this panelBrainTumorNext Panel
By Ambry Genetics BrainTumorNext that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 TP53 TSC1 TSC2 VHL SUFU DICER1 POT1
More info about this panelCancerNext-Expanded Panel
By Ambry Genetics CancerNext-Expanded that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1
More info about this panelCustomNext: Cancer Panel
By Ambry Genetics CustomNext: Cancer that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1
More info about this panelCustomNext: Neuro Panel
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 panelNeurodevelopment-Expanded Panel
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 panelIDNext Panel
By Ambry Genetics IDNext that also includes the following genes: RPL10 RPS6KA3 SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMARCA2
More info about this panelSMARCB1. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SMARCB1 gene.
More info about this panelSMARCB1. MLPA testing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SMARCB1 gene.
More info about this panelSMARCB1. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SMARCB1 gene.
More info about this panelINI1/SMARCB1 Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the SMARCB1 gene.
More info about this panelCHOP Comprehensive Hereditary Cancer Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Comprehensive Hereditary Cancer Panel that also includes the following genes: RMRP RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SH2D1A SLC25A13
More info about this panelHereditary Brain Tumor Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Hereditary Brain Tumor Panel that also includes the following genes: SMARCB1 TP53 VHL SUFU PALB2 ALK APC MEN1 MLH1 MSH2
More info about this panelHereditary Kidney Cancer Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Hereditary Kidney Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCB1 TSC1 TSC2 VHL WT1 CDC73
More info about this panelRhabdoid tumor syndrome (sequence analysis of SMARCB1 gene) Panel
By CGC Genetics
This panel specifically test the SMARCB1 gene.
More info about this panelRhabdoid tumor syndrome (deletion/duplication analysis of SMARCB1 gene) Panel
By CGC Genetics
This panel specifically test the SMARCB1 gene.
More info about this panelNeurofibromatosis type 1 and type 2 and Schwannomatosis (NGS panel for 3 genes) Panel
By CGC Genetics Neurofibromatosis type 1 and type 2 and Schwannomatosis (NGS panel for 3 genes) that also includes the following genes: SMARCB1 NF1 NF2
More info about this panelOncoRisk Plus (NGS panel for 89 genes) Panel
By CGC Genetics OncoRisk Plus (NGS panel for 89 genes) that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panelCoffin-Siris syndrome (NGS panel of 5 genes) Panel
By CGC Genetics Coffin-Siris syndrome (NGS panel of 5 genes) that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 ARID1A ARID1B
More info about this panelSchwannomatosis (sequence analysis of SMARCB1 gene) Panel
By CGC Genetics
This panel specifically test the SMARCB1 gene.
More info about this panelSchwannomatosis (sequence analysis of SMARCB1 gene) Panel
By CGC Genetics
This panel specifically test the SMARCB1 gene.
More info about this panelSMARCB1 Sequencing and Deletion/Duplication on Blood Panel
By Medical Genomics Laboratory Department of Genetics UAB
This panel specifically test the SMARCB1 gene.
More info about this panelSchwannomatosis Panel from Biopsy Specimen (NF2, LZTR1, SMARCB1) Panel
By Medical Genomics Laboratory Department of Genetics UAB Schwannomatosis Panel from Biopsy Specimen (NF2, LZTR1, SMARCB1) that also includes the following genes: SMARCB1 LZTR1 NF2
More info about this panelPeripheral Nerve Sheath Tumor NGS panel Panel
By Medical Genomics Laboratory Department of Genetics UAB Peripheral Nerve Sheath Tumor NGS panel that also includes the following genes: SMARCB1 KRAS LZTR1 NF1 NF2 PTPN11
More info about this panelSchwannomatosis/ Multiple Schwannomas NGS Panel Panel
By Medical Genomics Laboratory Department of Genetics UAB Schwannomatosis/ Multiple Schwannomas NGS Panel that also includes the following genes: SMARCB1 LZTR1 NF2
More info about this panelRhabdoid Tumor Predisposition NGS Panel Panel
By Medical Genomics Laboratory Department of Genetics UAB
This panel specifically test the SMARCB1 gene.
More info about this panelMeningiomatosis/ Multiple Meningioma NGS Panel Panel
By Medical Genomics Laboratory Department of Genetics UAB Meningiomatosis/ Multiple Meningioma NGS Panel that also includes the following genes: SMARCB1 SMARCE1 SUFU NF2
More info about this panelSchwannomatosis Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Schwannomatosis Sequencing Panel with CNV Detection that also includes the following genes: SMARCB1 LZTR1
More info about this panelCancer Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Cancer Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4
More info about this panelRenal Cancer Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Renal Cancer Sequencing Panel with CNV Detection that also includes the following genes: SDHA SDHB SDHC SDHD SMARCB1 EPCAM TP53 TSC1 TSC2 VHL
More info about this panelRhabdoid Tumor Predisposition Syndrome via SMARCB1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the SMARCB1 gene.
More info about this panelCoffin-Siris Syndrome Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Coffin-Siris Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 ARID1A SOX11 ARID1B
More info about this panelCornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 TAF1 TAF6 MED12 HDAC8
More info about this panelCoffin-Siris syndrome Panel
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 panelMental retardation - different panels Panel
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 panelCoffin-Siris and Nicolaides-Baraitser Syndrome (CSS, NCBRS) Panel
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 panelSchwannomatosis Panel
By MGZ Medical Genetics Center
This panel specifically test the SMARCB1 gene.
More info about this panelSMARCB1-Related Coffin-Siris Syndrome Panel
By MGZ Medical Genetics Center
This panel specifically test the SMARCB1 gene.
More info about this panelMental Retardation and Dysmorphology - panels Panel
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 panelHereditary Cancer Syndromes - panels Panel
By MGZ Medical Genetics Center Hereditary Cancer Syndromes - panels that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panelSyndromal Diseases - panels Panel
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 panelRenal Cancer Panel
By MGZ Medical Genetics Center Renal Cancer that also includes the following genes: SDHB SDHC SDHD SMARCB1 TP53 TSC1 TSC2 VHL WT1 FLCN
More info about this panelBrain Malformations / Neuronal Migration Disorders Panel
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 panelGastrointestinal Stromal Tumor Panel
By MGZ Medical Genetics Center Gastrointestinal Stromal Tumor that also includes the following genes: SDHB SDHC SDHD SMARCB1 SDHAF2 TMEM127 KIT MAX MEN1 NF1
More info about this panelCancer Hotspot Panel Panel
By Centogene AG - the Rare Disease Company Cancer Hotspot Panel that also includes the following genes: BCL6 ROS1 BRAF BRCA1 BRCA2 SMARCB1 SMO SRC STK11 HNF1A
More info about this panelSolid Tumor Panel Panel
By Centogene AG - the Rare Disease Company Solid Tumor Panel that also includes the following genes: ROS1 BRAF SMARCA4 SMARCB1 ARID1A SMO STK11 TP53 TSC1 KDM6A
More info about this panelRhabdoid tumors, somatic Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the SMARCB1 gene.
More info about this panelAllNeuro panel Panel
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 panelMental retardation, autosomal dominant type 15 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the SMARCB1 gene.
More info about this panelFamilial Tumor Syndromes Panel Panel
By CeGaT GmbH Familial Tumor Syndromes Panel that also includes the following genes: BLM SDHB SDHC SDHD SMARCA4 SMARCB1 SMARCE1 TP53 TSC1 TSC2
More info about this panelCancer Predisposition Panel
By Asper Biogene Asper Biogene LLC Cancer Predisposition that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1
More info about this panelNEUROFIBROMATOSI DE TYPE 2 - NF2 gene Panel
By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute NEUROFIBROMATOSI DE TYPE 2 - NF2 gene that also includes the following genes: SMARCB1 LZTR1 NF2
More info about this panelFAMILIAL SCHWANNOMATOSI - SMARCB1/INI1 gene Panel
By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute FAMILIAL SCHWANNOMATOSI - SMARCB1/INI1 gene that also includes the following genes: SMARCB1 LZTR1 NF2
More info about this panelInvitae Rhabdoid Tumor Predisposition Syndrome Panel Panel
By Invitae Invitae Rhabdoid Tumor Predisposition Syndrome Panel that also includes the following genes: SMARCA4 SMARCB1
More info about this panelInvitae Schwannomatosis Test Panel
By Invitae
This panel specifically test the SMARCB1 gene.
More info about this panelInvitae Multi-Cancer Panel Panel
By Invitae Invitae Multi-Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4
More info about this panelInvitae Renal/Urinary Tract Cancers Panel Panel
By Invitae Invitae Renal/Urinary Tract Cancers Panel that also includes the following genes: SDHB SDHC SMARCA4 SMARCB1 EPCAM TP53 TSC1 TSC2 VHL WT1
More info about this panelInvitae Nervous System/Brain Cancer Panel Panel
By Invitae Invitae Nervous System/Brain Cancer Panel that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 EPCAM TP53 TSC1 TSC2 VHL SUFU DICER1
More info about this panelInvitae Pediatric Nervous System/Brain Tumors Panel Panel
By Invitae Invitae Pediatric Nervous System/Brain Tumors Panel that also includes the following genes: SMARCB1 SMARCE1 EPCAM TP53 TSC1 TSC2 VHL SUFU DICER1 ALK
More info about this panelInvitae Pediatric Solid Tumors Panel Panel
By Invitae Invitae Pediatric Solid Tumors Panel that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A SMARCA4 SMARCB1 SMARCE1 STK11
More info about this panelSchwannomatosis 1, susceptibility to: SMARCB1 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SMARCB1 gene.
More info about this panelRhabdoids, predisposition syndrome 1 / somatic turmors: SMARCB1 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SMARCB1 gene.
More info about this panelCOFFIN-SIRIS SYNDROME Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases COFFIN-SIRIS SYNDROME that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 ARID1A ARID1B
More info about this panelONCOLOGY, PANEL Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases ONCOLOGY, PANEL that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRAF BRCA1 BRCA2 SMARCA4
More info about this panelAutism Spectrum Disorders: Tier 2 Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Autism Spectrum Disorders: Tier 2 Panel that also includes the following genes: SCN1A BRAF SLC2A1 SLC9A6 SMARCB1 SMC1A KDM5C CDKL5 TCF4 MED12
More info about this panelHereditary Cancer Syndrome: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Cancer Syndrome: Sequencing Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1 STK11
More info about this panelAutism Spectrum Disorders: Tier 2 Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel that also includes the following genes: SCN1A BRAF SLC2A1 SLC9A6 SMARCB1 SMC1A KDM5C CDKL5 TCF4 MED12
More info about this panelHereditary Cancer Syndrome: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Cancer Syndrome: Deletion/Duplication Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 BUB1B
More info about this panelHereditary Cancer NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Hereditary Cancer NGS Panel that also includes the following genes: ROBO2 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1
More info about this panelIntellectual Disability NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panelRenal/Kidney NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Renal/Kidney NGS Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCB1 EPCAM TP53 TSC1 TSC2 VHL
More info about this panelSMARCB1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SMARCB1 gene.
More info about this panelNervous System / Brain Cancer Comprehensive Panel Panel
By Fulgent Genetics Fulgent Genetics Nervous System / Brain Cancer Comprehensive Panel that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 EPCAM TP53 TSC1 TSC2 VHL SUFU DICER1
More info about this panelComprehensive Cancer Panel Panel
By Fulgent Genetics Fulgent Genetics Comprehensive Cancer Panel that also includes the following genes: ROBO2 RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2
More info about this panelRenal / Urinary Cancer Comprehensive Panel Panel
By Fulgent Genetics Fulgent Genetics Renal / Urinary Cancer Comprehensive Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCA4 SMARCB1 EPCAM TP53 TSC1 TSC2
More info about this panelHemato-oncology chromosomal microarray Panel
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Hemato-oncology chromosomal microarray that also includes the following genes: BLM BRAF BRCA1 BRCA2 SMARCB1 KDM5C SMO ABI1 SSX1 SSX2
More info about this panelNeurofibromatosis Panel Panel
By Blueprint Genetics Neurofibromatosis Panel that also includes the following genes: SMARCB1 SPRED1 KIT KITLG NF1 NF2 PTPN11 RAF1
More info about this panelHereditary Pediatric Cancer Panel Panel
By Blueprint Genetics Hereditary Pediatric Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF
More info about this panelComprehensive Hereditary Cancer Panel Panel
By Blueprint Genetics Comprehensive Hereditary Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF
More info about this panelHereditary Gastrointestinal Cancer Panel Panel
By Blueprint Genetics Hereditary Gastrointestinal Cancer Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 BUB1B
More info about this panelHereditary Renal Cancer Panel Panel
By Blueprint Genetics Hereditary Renal Cancer Panel that also includes the following genes: SDHB SDHC SDHD SMARCA4 SMARCB1 EPCAM TP53 TSC1 TSC2 VHL
More info about this panelNeurofibromatosis type 3 Panel
By Bioarray
This panel specifically test the SMARCB1 gene.
More info about this panelSolid Tumor Gene Set Panel
By Genomics and Pathology Services Washington University in St. Louis Solid Tumor Gene Set that also includes the following genes: RIT1 ROS1 RXRA FOXL2 BRAF BRCA1 BRCA2 SMARCA4 SMARCB1 KDM5C
More info about this panelCNS Tumor Gene Set Panel
By Genomics and Pathology Services Washington University in St. Louis CNS Tumor Gene Set that also includes the following genes: SHH BRAF SMARCA4 SMARCB1 SMO TERT MED12 TP53 WNT1 WT1
More info about this panelFoundationOne® Heme Panel
By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1
More info about this panelComprehensive Panel for Individualized Cancer Threatment Panel
By GeneKor MSA Comprehensive Panel for Individualized Cancer Threatment that also includes the following genes: ROS1 BRAF SMARCB1 SMO SRC HNF1A TP53 VHL FBXW7 CDH1
More info about this panelCancer Hotspot Analysis Panel
By Advanced Technology Laboratory Spectrum Health Cancer Hotspot Analysis that also includes the following genes: BRAF SMARCB1 SMO SRC STK11 HNF1A TP53 VHL FBXW7 CDH1
More info about this panelNeoTYPE® Discovery Profile for Solid Tumors Panel
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2
More info about this panelCaris MI TumorSeek 592-Gene NGS Panel Panel
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panelOmniSeq Comprehensive Panel
By OmniSeq, Inc. OmniSeq Comprehensive that also includes the following genes: RHEB BCL9 ROS1 RPS6KB1 SF3B1 FOXL2 BRAF BRCA1 BRCA2 SMARCB1
More info about this panelRABDOID TUMOR Panel
By Laboratorio de Genetica Clinica SL RABDOID TUMOR that also includes the following genes: SMARCA4 SMARCB1
More info about this panelNEUROFIBROMATOSIS/SCHWANNOMATOSIS NGS PANEL Panel
By Laboratorio de Genetica Clinica SL NEUROFIBROMATOSIS/SCHWANNOMATOSIS NGS PANEL that also includes the following genes: SMARCB1 COQ6 SPRED1 CABIN1 LZTR1 NF1 NF2 PRKAR1A
More info about this panelSCHWANNOMATOSIS Panel
By Laboratorio de Genetica Clinica SL SCHWANNOMATOSIS that also includes the following genes: SMARCB1 COQ6 CABIN1 LZTR1
More info about this panelCOFFIN-SIRIS SYNDROME NGS PANEL Panel
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 panelSMARCB1 sanger sequencing and Del/Dup Panel
By Children's Hospital of Los Angeles, Center for Personalized Medicine
This panel specifically test the SMARCB1 gene.
More info about this panelProvidence Personalized Medicine Panel - Solid Tumor Panel
By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2
More info about this panelCoffin-Siris Syndrome, Sequencing SMARCB1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the SMARCB1 gene.
More info about this panelSchwannomatosis, Sequencing SMARCB1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the SMARCB1 gene.
More info about this panelRhabdoid Tumor Predisposition Syndrome , Sequencing SMARCB1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the SMARCB1 gene.
More info about this panelCoffin-Siris Syndrome , Deletions-Duplications (MLPA) SMARCB1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the SMARCB1 gene.
More info about this panelSchwannomatosis, Deletions-Duplications (MLPA) SMARCB1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the SMARCB1 gene.
More info about this panelOncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes Panel
By Reference Laboratory Genetics Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panelCoffin-Siris Syndrome, Panel Massive Sequencing (NGS) 5 Genes Panel
By Reference Laboratory Genetics Coffin-Siris Syndrome, Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 ARID1A ARID1B
More info about this panelSchwannomatosis, Panel Massive Sequencing (NGS) 7 Genes Panel
By Reference Laboratory Genetics Schwannomatosis, Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: SMARCB1 SMARCE1 SUFU LZTR1 NF2 PDGFB PTEN
More info about this panelMental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes Panel
By Reference Laboratory Genetics Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes that also includes the following genes: RPS6KA3 ST3GAL3 SLC6A8 SMARCA4 SMARCB1 ARID1A KDM5C STXBP1 SYNGAP1 SYP
More info about this panelAutosomal Dominant Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes Panel
By Reference Laboratory Genetics Autosomal Dominant Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes that also includes the following genes: SMARCA4 SMARCB1 ARID1A SYNGAP1 TRIO ZBTB18 CACNG2 DEAF1 SETBP1 ADNP
More info about this panelPhosphorus Brain and Nervous System Cancer Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Brain and Nervous System Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCA4 SMARCB1 SMARCE1 EPCAM TP53 TSC1
More info about this panelPhosphorus Renal/Urinary Tract Cancer Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Renal/Urinary Tract Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCA4 SMARCB1 EPCAM TP53 TSC1 TSC2
More info about this panelPhosphorus Pan-Cancer Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Pan-Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4
More info about this panelPhosphorus Pediatric Cancers Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Pediatric Cancers Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SMARCB1 STK11 EPCAM
More info about this panelTempus xT assay Panel
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panelTempus xO assay Panel
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 panelRenal Cancer: Gene Sequencing Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Renal Cancer: Gene Sequencing Panel that also includes the following genes: SDHB SDHC SDHD SMARCB1 BUB1B TP53 TSC1 TSC2 VHL WT1
More info about this panelRenal Cancer: Gene Deletion/Duplication Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Renal Cancer: Gene Deletion/Duplication Panel that also includes the following genes: SDHB SDHC SDHD SMARCB1 BUB1B TP53 TSC1 TSC2 VHL WT1
More info about this panelCEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2
More info about this panelCEN4GEN Comprehensive targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel that also includes the following genes: BRAF SMARCB1 SMO SRC STK11 HNF1A TP53 VHL FBXW7 CDH1
More info about this panelHereditary Cancer Syndrome: Gene Sequencing Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Cancer Syndrome: Gene Sequencing Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1 STK11
More info about this panelHereditary Cancer Syndrome: Gene Deletion/Duplication Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Cancer Syndrome: Gene Deletion/Duplication Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 BUB1B
More info about this panelPrimBio Cancer HotSpot Panel Panel
By PrimBio Research Institute PrimBio Research Institute PrimBio Cancer HotSpot Panel that also includes the following genes: BRAF SMARCB1 SMO SRC STK11 HNF1A TP53 VHL FBXW7 CDH1
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