SHOC2 gene related symptoms and diseases
All the information presented here about the SHOC2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SHOC2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Arnold-Chiari type I malformation | Very Common - Between 80% and 100% cases |
| Loose anagen hair | Very Common - Between 80% and 100% cases |
| Atrial septal defect | Very Common - Between 80% and 100% cases |
| Posteriorly rotated ears | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SHOC2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Prominent forehead
- Hyperactivity
- High forehead
- Hypertrophic cardiomyopathy
- Attention deficit hyperactivity disorder
- Pulmonic stenosis
- Short neck
- Ichthyosis
And 119 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SHOC2 gene
Here you will find a list of rare diseases related to the SHOC2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR
Alternate names
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR Is also known as ns/lah, tosti syndrome
Description
Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.
Most common symptoms of NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Hearing impairment
More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1
Alternate names
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1 Is also known as tosti syndrome, nslh
Description
Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome (OMIM ), including hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly angulated ears, and overfolded pinnae. In addition, patients display short stature, frequently with growth hormone (GH; see {139250}) deficiency; cognitive deficits; relative macrocephaly; small posterior fossa resulting in Chiari I malformation; hypernasal voice; cardiac defects, especially dysplasia of the mitral valve and septal defects; and ectodermal abnormalities, in which the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow-growing hair (summary by Bertola et al., 2017).
Most common symptoms of NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Hypertelorism
More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1
SOURCES: OMIM
Search interest in SHOC2
Potential gene panels for SHOC2 gene
SHOC2 Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the SHOC2 gene.
More info about this panel United States.
SHOC2 Sequence Analysis (Familial Mutation/Variant Analysis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the SHOC2 gene.
More info about this panel United States.
SHOC2 Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the SHOC2 gene.
More info about this panel United States.
PreSeek Non-invasive Prenatal Gene Sequencing Screen Panel
United States.
By Baylor Miraca Genetics Laboratories PreSeek Non-invasive Prenatal Gene Sequencing Screen that also includes the following genes: RIT1 BRAF SMC1A SOS1 SOS2 CDKL5 SYNGAP1 TSC1 TSC2 HDAC8
More info about this panel United States.
Non-immune Hydrops Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Non-immune Hydrops Panel that also includes the following genes: RIT1 RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 SEC23B
More info about this panel United States.
NGS RASopathy Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS RASopathy Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 CBL SHOC2 KAT6B SPRED1 A2ML1
More info about this panel United States.
Comprehensive Cardiac Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Cardiac Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN2B SCN4B SCN5A SGCD SLC22A5 BRAF SNTA1
More info about this panel United States.
Noonan-like syndrome (SHOC2) Panel
United States.
By Center for Human Genetics, Inc
This panel specifically test the SHOC2 gene.
More info about this panel United States.
Noonan Syndrome 11-Gene Sequencing Panel Panel
United States.
By Center for Human Genetics, Inc Noonan Syndrome 11-Gene Sequencing Panel that also includes the following genes: RIT1 BRAF SOS1 SOS2 CBL SHOC2 KRAS LZTR1 NRAS PTPN11
More info about this panel United States.
Noonan Spectrum Disorders Panel Panel
United States.
By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital Noonan Spectrum Disorders Panel that also includes the following genes: RIT1 BRAF SOS1 CBL SHOC2 SPRED1 A2ML1 HRAS KRAS MAP2K1
More info about this panel United States.
Rasopathy NextGen Panel Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado Rasopathy NextGen Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1
More info about this panel United States.
Cardiomyopathy Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Cardiomyopathy Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SCO2 SGCD SKI BRAF SNTA1 SOS1
More info about this panel United States.
Noonan Syndrome Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Noonan Syndrome Panel that also includes the following genes: BRAF SOS1 CBL SHOC2 SPRED1 HRAS KRAS MAP2K1 MAP2K2 NRAS
More info about this panel United States.
Noonan like syndrome with loose anagen hair Panel
United States.
By Genetics Laboratory Shodair Children's Hospital
This panel specifically test the SHOC2 gene.
More info about this panel United States.
Noonan Spectrum Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Noonan Spectrum Panel that also includes the following genes: RIT1 BRAF SOS1 CBL SHOC2 SPRED1 HRAS KRAS MAP2K1 MAP2K2
More info about this panel United States.
Noonan Syndrome Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Noonan Syndrome Sequencing Panel that also includes the following genes: RIT1 BRAF SOS1 CBL SHOC2 HRAS KRAS MAP2K1 MAP2K2 NF1
More info about this panel United States.
Noonan Syndrome Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Noonan Syndrome Deletion/Duplication Panel that also includes the following genes: BRAF SOS1 CBL SHOC2 HRAS KRAS MAP2K1 MAP2K2 NF1 NRAS
More info about this panel United States.
Expanded RASopathy Panel (14 Genes) Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Expanded RASopathy Panel (14 Genes) that also includes the following genes: RIT1 BRAF SOS1 CBL SHOC2 SPRED1 HRAS KRAS MAP2K1 MAP2K2
More info about this panel United States.
Noonan Spectrum Disorders Panel, Sequencing Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Noonan Spectrum Disorders Panel, Sequencing that also includes the following genes: RIT1 BRAF SOS1 CBL SHOC2 KAT6B SPRED1 RAB40AL HRAS KRAS
More info about this panel United States.
Noonan Spectrum Disorders Panel, Sequencing, Fetal Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Noonan Spectrum Disorders Panel, Sequencing, Fetal that also includes the following genes: RIT1 BRAF SOS1 CBL SHOC2 KAT6B SPRED1 RAB40AL HRAS KRAS
More info about this panel United States.
Noonan Spectrum Disorders Panel Panel
United States.
By GeneDx Noonan Spectrum Disorders Panel that also includes the following genes: BRAF SOS1 CBL SHOC2 HRAS KRAS MAP2K1 MAP2K2 NRAS PTPN11
More info about this panel United States.
Noonan-Like Syndrome with Loose Anagen Hair Panel
United States.
By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children
This panel specifically test the SHOC2 gene.
More info about this panel United States.
Noonan syndrome/RASopathy Disorders Panel Panel
United States.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Noonan syndrome/RASopathy Disorders Panel that also includes the following genes: RIT1 BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1 HRAS
More info about this panel United States.
Autism/Intellectual Disability/Multiple Anomalies Panel
United States.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Autism/Intellectual Disability/Multiple Anomalies that also includes the following genes: BDNF RPS6KA3 SCN1A BRAF SLC2A1 SLC6A4 SLC9A6 SMC1A KDM5C SOS1
More info about this panel United States.
Lymphedema NGS Multi-Gene Panel (36 Genes) Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Lymphedema NGS Multi-Gene Panel (36 Genes) that also includes the following genes: BRAF SOS1 SOX18 VEGFC CBL SHOC2 GJC2 TUBGCP6 CDK19 SPRED1
More info about this panel Netherlands.
SHOC2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SHOC2 gene.
More info about this panel Spain.
PTPN11, SOS1, RAF1, KRAS, BRAF, NRAS, HRAS, SPRED1, SHOC2, CBL, MAP2K1, MAP2K2. NextGeneDx.Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica PTPN11, SOS1, RAF1, KRAS, BRAF, NRAS, HRAS, SPRED1, SHOC2, CBL, MAP2K1, MAP2K2. NextGeneDx.Complete sequencing by NGS that also includes the following genes: SOS1 CBL SHOC2 SPRED1 HRAS KRAS MAP2K1 MAP2K2 NRAS PTPN11
More info about this panel Spain.
Noonan Syndrome-like Disorder with Loose Anagin Hair Panel
Spain.
By Unity of Clinical Genetics and Functional Genomics University of Zaragoza. Faculty of Medicine.
This panel specifically test the SHOC2 gene.
More info about this panel Spain.
Noonan Spectrum Panel - PTPN11, RAF1, SOS1, KRAS, BRAF, HRAS, NRAS, CBL, SHOC2, MAP2K1, MAP2K2, and SPRED1 Next Generation Sequence Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Noonan Spectrum Panel - PTPN11, RAF1, SOS1, KRAS, BRAF, HRAS, NRAS, CBL, SHOC2, MAP2K1, MAP2K2, and SPRED1 Next Generation Sequence Analysis that also includes the following genes: BRAF SOS1 CBL SHOC2 SPRED1 HRAS KRAS MAP2K1 MAP2K2 NRAS
More info about this panel United States.
Noonan Syndrome with Loose Anagen Hair - SHOC2 Sequence Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the SHOC2 gene.
More info about this panel United States.
Noonan Syndrome Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Noonan Syndrome Seq Analysis that also includes the following genes: BRAF SOS1 CBL SHOC2 SPRED1 HRAS KRAS MAP2K1 MAP2K2 NRAS
More info about this panel United States.
SHOC2-related Noonan-like syndrome with loose anagen hair Panel
United States.
By Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
This panel specifically test the SHOC2 gene.
More info about this panel United States.
Noonan-like syndrome (sequence analysis of SHOC2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SHOC2 gene.
More info about this panel Portugal.
Noonan syndrome and rasopathies (NGS panel for 13 genes) Panel
Portugal.
By CGC Genetics Noonan syndrome and rasopathies (NGS panel for 13 genes) that also includes the following genes: BRAF SOS1 CBL SHOC2 SPRED1 HRAS KRAS MAP2K1 MAP2K2 NF1
More info about this panel Portugal.
Hereditary ichthyosis (NGS panel of 53 genes) Panel
Portugal.
By CGC Genetics Hereditary ichthyosis (NGS panel of 53 genes) that also includes the following genes: SLC27A4 SNAP29 ST14 STIM1 STS TGM1 TGM5 SHOC2 SPINK5 SLURP1
More info about this panel Portugal.
Hereditary ichthyosis (NGS panel of 53 genes) Panel
Portugal.
By CGC Genetics Hereditary ichthyosis (NGS panel of 53 genes) that also includes the following genes: SLC27A4 SNAP29 ST14 STIM1 STS TGM1 TGM5 SHOC2 SPINK5 SLURP1
More info about this panel Portugal.
Non-NF1 RASopathy Next Generation Sequencing and Deletion/Duplication Panel
United States.
By Medical Genomics Laboratory Department of Genetics UAB Non-NF1 RASopathy Next Generation Sequencing and Deletion/Duplication that also includes the following genes: RIT1 BRAF SOS1 SOS2 CBL SHOC2 SPRED1 HRAS KRAS MAP2K1
More info about this panel United States.
RASopathy Next Generation Sequencing and Deletion/Duplication Panel
United States.
By Medical Genomics Laboratory Department of Genetics UAB RASopathy Next Generation Sequencing and Deletion/Duplication that also includes the following genes: RIT1 BRAF SOS1 SOS2 CBL SHOC2 SPRED1 HRAS KRAS MAP2K1
More info about this panel United States.
Noonan Spectrum Disorders/Rasopathies Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Noonan Spectrum Disorders/Rasopathies Sequencing Panel with CNV Detection that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 SPRY1 CBL SHOC2 KAT6B A2ML1
More info about this panel United States.
Noonan-Like Syndrome with Loose Anagen Hair via SHOC2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SHOC2 gene.
More info about this panel United States.
Comprehensive Cardiology Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Cardiology Sequencing Panel with CNV Detection that also includes the following genes: RYR1 RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCD SGCG BRAF
More info about this panel United States.
Fetal Concerns Sequencing Panel Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Fetal Concerns Sequencing Panel Sequencing Panel with CNV Detection that also includes the following genes: RIT1 SCN5A SLC17A5 BRAF SOS1 CBL SHOC2 KAT6B CHRNA1 CHRND
More info about this panel United States.
Noonan spectrum disorder Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Noonan spectrum disorder Comprehensive panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1
More info about this panel United States.
Noonan spectrum disorder Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Noonan spectrum disorder Deletion / Duplication panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1
More info about this panel United States.
Noonan spectrum disorder NGS panel Panel
United States.
By Connective Tissue Gene Tests Noonan spectrum disorder NGS panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1
More info about this panel United States.
Noonan syndrome core Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Noonan syndrome core Deletion / Duplication panel that also includes the following genes: RIT1 BRAF SOS1 SOS2 CBL SHOC2 HRAS KRAS LZTR1 MAP2K1
More info about this panel United States.
Noonan syndrome core Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Noonan syndrome core Comprehensive panel that also includes the following genes: RIT1 BRAF SOS1 SOS2 CBL SHOC2 HRAS KRAS LZTR1 MAP2K1
More info about this panel United States.
Noonan syndrome core NGS panel Panel
United States.
By Connective Tissue Gene Tests Noonan syndrome core NGS panel that also includes the following genes: RIT1 BRAF SOS1 SOS2 CBL SHOC2 HRAS KRAS LZTR1 MAP2K1
More info about this panel United States.
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.
Heart Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Heart Diseases - panels that also includes the following genes: RIT1 RRAS RYR2 SCN4B SCN5A SCO2 SDHA BMPR2 SGCA SGCB
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.
RASopathies Panel
Germany.
By MGZ Medical Genetics Center RASopathies that also includes the following genes: RRAS BRAF SOS1 CBL SHOC2 SPRED1 HRAS KRAS MAP2K1 MAP2K2
More info about this panel Germany.
Noonan Syndrome Panel
Germany.
By MGZ Medical Genetics Center Noonan Syndrome that also includes the following genes: RRAS SOS1 CBL SHOC2 KRAS NRAS PTPN11 RAF1 RASA2
More info about this panel Germany.
Congenital heart defects panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht Congenital heart defects panel that also includes the following genes: BRAF SOS1 TAZ TBX20 TBX5 ZIC3 ACTC1 CRELD1 CBL SHOC2
More info about this panel Netherlands.
Noonan syndrom like Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SHOC2 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.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
RASopathies Panel Panel
Germany.
By CeGaT GmbH RASopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 CBL SHOC2 CCND2 STAMBP SPRED1 A2ML1
More info about this panel Germany.
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel Panel
Germany.
By CeGaT GmbH Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel that also includes the following genes: BCS1L SNRPE SOX18 ST14 TRPS1 IFT122 WNT10A EDARADD SHOC2 LPAR6
More info about this panel Germany.
RASopathies Panel Panel
Germany.
By CeGaT GmbH RASopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 CBL SHOC2 CCND2 STAMBP SPRED1 A2ML1
More info about this panel Germany.
RASopathies Panel Panel
Germany.
By CeGaT GmbH RASopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 CBL SHOC2 CCND2 STAMBP SPRED1 A2ML1
More info about this panel Germany.
Noonan Syndrome Panel
Estonia.
By Asper Biogene Asper Biogene LLC Noonan Syndrome that also includes the following genes: BRAF SOS1 CBL SHOC2 KAT6B SPRED1 HRAS KRAS LZTR1 MAP2K1
More info about this panel Estonia.
Inherited Cardiovascular Diseases and Sudden Death Panel Panel
Spain.
By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA
More info about this panel Spain.
Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease Panel
Spain.
By Health in Code Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SLC22A5 BRAF SLC25A4
More info about this panel Spain.
Cardiomyopathies Panel Panel
Spain.
By Health in Code Cardiomyopathies Panel that also includes the following genes: MRPL3 RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF SLC25A4 SOS1
More info about this panel Spain.
Rasopathies NGS Panel Panel
Spain.
By Health in Code Rasopathies NGS Panel that also includes the following genes: BRAF SOS1 CBL SHOC2 SPRED1 HRAS KRAS MAP2K1 MAP2K2 NRAS
More info about this panel Spain.
Congenital Heart Diseases Panel Panel
Spain.
By Health in Code Congenital Heart Diseases Panel that also includes the following genes: BRAF SOS1 TBX1 TBX20 TBX5 TNNI3 TTN ACTA2 ACTC1 CRELD1
More info about this panel Spain.
Hypertrophic Cardiomyopathy Extended Panel Panel
Spain.
By Health in Code Hypertrophic Cardiomyopathy Extended Panel that also includes the following genes: MRPL3 RYR2 SLC22A5 BRAF SLC25A4 SOS1 SURF1 TAZ TCAP KLF10
More info about this panel Spain.
Cardiovascular Diseases_General Panel Panel
Spain.
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panel Spain.
Arrhythmia General Panel Panel
Spain.
By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2
More info about this panel Spain.
Congenital heart diseases Panel Panel
Spain.
By Health in Code Congenital heart diseases Panel that also includes the following genes: BRAF SOS1 TBX1 TBX20 TBX5 TFAP2B TNNI3 MED12 ZIC3 ACTA2
More info about this panel Spain.
Hypertrophic cardiomyopathy extended panel Panel
Spain.
By Health in Code Hypertrophic cardiomyopathy extended panel that also includes the following genes: MRPL3 RYR2 SCO2 SLC22A5 BRAF SLC25A3 SLC25A4 SOS1 SURF1 TAZ
More info about this panel Spain.
Cardiomyopathies General Panel Panel
Spain.
By Health in Code Cardiomyopathies General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN5A SCO2 SDHA SGCA SGCB SGCD
More info about this panel Spain.
RASopathies Panel Panel
Spain.
By Health in Code RASopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 SHOC2 SPRED1 A2ML1 HRAS KRAS
More info about this panel Spain.
RASOPATHY-RELATED SYNDROME Panel
Spain.
By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute RASOPATHY-RELATED SYNDROME that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 CBL SHOC2 SPRED1 A2ML1 HRAS
More info about this panel Spain.
NOONAN SYNDROME Panel
Spain.
By Hereditary Cancer Group - Genetic Diagnostic Unit Germans Trias I Pujol Research Institute NOONAN SYNDROME that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 CBL SHOC2 A2ML1 KRAS LZTR1
More info about this panel Spain.
Invitae Congenital Heart Defects and Heterotaxy Panel Panel
United States.
By Invitae Invitae Congenital Heart Defects and Heterotaxy Panel that also includes the following genes: RIT1 RPGR BRAF SOS1 SPAG1 TBX1 TBX5 RSPH1 ZIC3 CFAP298
More info about this panel United States.
Invitae Congenital Heart Disease Panel Panel
United States.
By Invitae Invitae Congenital Heart Disease Panel that also includes the following genes: RIT1 BRAF SOS1 TBX1 TBX5 ZIC3 NSD1 ACTC1 CRELD1 CBL
More info about this panel United States.
Invitae Cardio-Facio-Cutaneous Syndrome Panel Panel
United States.
By Invitae Invitae Cardio-Facio-Cutaneous Syndrome Panel that also includes the following genes: BRAF SOS1 SHOC2 KRAS MAP2K1 MAP2K2
More info about this panel United States.
Invitae Noonan Syndrome Panel Panel
United States.
By Invitae Invitae Noonan Syndrome Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 CBL SHOC2 A2ML1 KRAS MAP2K1
More info about this panel United States.
Invitae RASopathies Comprehensive Panel Panel
United States.
By Invitae Invitae RASopathies Comprehensive Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 CBL SHOC2 SPRED1 A2ML1 HRAS
More info about this panel United States.
NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME that also includes the following genes: RIT1 SHOX BRAF SOS1 SPRY2 SRC CD2AP GAB2 CBL SHOC2
More info about this panel Spain.
Noonan-Like Syndrome with Loose Anagen Hair: SHOC2 Full Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the SHOC2 gene.
More info about this panel United States.
Noonan-Like Syndrome with Loose Anagen Hair: SHOC2 Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the SHOC2 gene.
More info about this panel United States.
Noonan Syndrome and Related Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Noonan Syndrome and Related Disorders: Sequencing Panel that also includes the following genes: BRAF SOS1 CBL SHOC2 SPRED1 HRAS KRAS MAP2K1 MAP2K2 NRAS
More info about this panel United States.
Noonan Syndrome and Related Conditions Profile Panel
United States.
By Integrated Genetics Westborough Integrated Genetics Noonan Syndrome and Related Conditions Profile that also includes the following genes: BRAF SOS1 SHOC2 HRAS KRAS MAP2K1 MAP2K2 PTPN11 RAF1
More info about this panel United States.
Noonan Syndrome NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Noonan Syndrome NGS Panel that also includes the following genes: BRAF SOS1 CBL SHOC2 HRAS KRAS MAP2K1 MAP2K2 NRAS PTPN11
More info about this panel United States.
Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
More info about this panel United States.
SHOC2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SHOC2 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.
Cardiomyopathy Panel Panel
Finland.
By Blueprint Genetics Cardiomyopathy Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SCNN1B SCNN1G SCO2 SDHA SGCA SGCB
More info about this panel Finland.
Comprehensive Short Stature Syndrome Panel Panel
Finland.
By Blueprint Genetics Comprehensive Short Stature Syndrome Panel that also includes the following genes: RIT1 BCS1L RRAS SHOX BRAF SMC1A SOS1 SOX2 SOX3 STAT5B
More info about this panel Finland.
Hereditary Pediatric Cancer Panel Panel
Finland.
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 panel Finland.
Comprehensive Hereditary Cancer Panel Panel
Finland.
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 panel Finland.
Comprehensive Cardiology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA
More info about this panel Finland.
Noonan Syndrome Panel Panel
Finland.
By Blueprint Genetics Noonan Syndrome Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 ACTB ACTG1 CBL SHOC2 SPRED1
More info about this panel Finland.
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panel Finland.
Noonan Syndrome Panel Panel
United States.
By Insight Medical Genetics Noonan Syndrome Panel that also includes the following genes: RIT1 BRAF SOS1 CBL SHOC2 HRAS KRAS MAP2K1 MAP2K2 NRAS
More info about this panel United States.
Noonan-like syndrome with loose anagen hair Panel
Spain.
By Bioarray
This panel specifically test the SHOC2 gene.
More info about this panel Spain.
Solid Tumor Gene Set Panel
United States.
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 panel United States.
CardioGene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis CardioGene Set that also includes the following genes: RIT1 RYR2 SCN1B SCN4B SCN5A SGCD BRAF SNTA1 SOS1 TAZ
More info about this panel United States.
Cardiomyopathy Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Cardiomyopathy Gene Set that also includes the following genes: RIT1 RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TMPO TNNC1
More info about this panel United States.
Hypertrophic Cardiomyopathy Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Hypertrophic Cardiomyopathy Gene Set that also includes the following genes: RIT1 BRAF SOS1 TNNC1 TNNI3 TNNT2 TPM1 TTR MYOZ2 ACTC1
More info about this panel United States.
Noonan Syndrome Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Noonan Syndrome Panel that also includes the following genes: BRAF SOS1 CBL SHOC2 KRAS MAP2K1 NRAS PTPN11 RAF1
More info about this panel United States.
Noonan Syndrome and related disorders (RASopathies) Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Noonan Syndrome and related disorders (RASopathies) Panel that also includes the following genes: BRAF SOS1 CBL SHOC2 HRAS KRAS MAP2K1 MAP2K2 NRAS PTPN11
More info about this panel United States.
SHOC2 Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the SHOC2 gene.
More info about this panel United States.
Cardiomyopathy Exome Panel Panel
United States.
By Northwest Clinical Genomics Laboratory University of Washington Cardiomyopathy Exome Panel that also includes the following genes: RIT1 RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TMPO TNNC1
More info about this panel United States.
NOONAN-LIKE SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL NOONAN-LIKE SYNDROME that also includes the following genes: RRAS CBL SHOC2 A2ML1 NSUN2 MAP2K2
More info about this panel Spain.
Noonan-Like Syndrome with Loose Anagen Hair , Sequencing SHOC2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SHOC2 gene.
More info about this panel Spain.
Noonan Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 13 Genes Panel
Spain.
By Reference Laboratory Genetics Noonan Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 13 Genes that also includes the following genes: RIT1 BRAF SOS1 CBL SHOC2 SPRED1 HRAS MAP2K1 MAP2K2 NRAS
More info about this panel Spain.
Cardiofaciocutaneous Syndrome , Panel Massive Sequencing (NGS) 6 Genes Panel
Spain.
By Reference Laboratory Genetics Cardiofaciocutaneous Syndrome , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: BRAF SOS1 SHOC2 KRAS MAP2K1 MAP2K2
More info about this panel Spain.
Phosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SDHA SGCD SLC22A5 BRAF SOS1 SOS2
More info about this panel United States.
Phosphorus Pan Cardiomyopathy Including Rasopathies Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Pan Cardiomyopathy Including Rasopathies Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SGCD SLC22A5 BRAF SOS1 SOS2 TAZ
More info about this panel United States.
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN4B SCN5A SGCD SLC22A5 BRAF SNTA1
More info about this panel United States.
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN4B SCN5A SDHA SGCD SLC22A5 BRAF
More info about this panel United States.
Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SDHA SGCD SLC22A5 BRAF SOS1 SOS2
More info about this panel United States.
Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 TCAP TNNC1 TNNI3 TNNT2 TPM1
More info about this panel United States.
Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 SOS2 TCAP TNNC1 TNNI3 TNNT2 TPM1
More info about this panel United States.
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.
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