SRPX2 gene related symptoms and diseases
All the information presented here about the SRPX2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SRPX2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Common - Between 50% and 80% cases |
| Seizures | Common - Between 50% and 80% cases |
| Generalized tonic-clonic seizures | Uncommon - Between 30% and 50% cases |
| Muscle fibrillation | Uncommon - Between 30% and 50% cases |
| Clonus | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with SRPX2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Intellectual disability, mild
- Polymicrogyria
- Perisylvian polymicrogyria
- Delayed speech and language development
- Global developmental delay
Rarely - Less than 30% cases
- Paralysis
- Frontoparietal polymicrogyria
- Speech apraxia
And 33 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SRPX2 gene
Here you will find a list of rare diseases related to the SRPX2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ROLANDIC EPILEPSY
Alternate names
ROLANDIC EPILEPSY Is also known as becrs, bre, benign rolandic epilepsy, bects, centrotemporal epilepsy, benign epilepsy of childhood with centrotemporal spikes, benign familial epilepsy of childhood with rolandic spikes
Description
Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome.
Most common symptoms of ROLANDIC EPILEPSY
- Intellectual disability
- Seizures
- Global developmental delay
- Microcephaly
- Abnormal facial shape
More info about ROLANDIC EPILEPSY
BILATERAL PERISYLVIAN POLYMICROGYRIA
Alternate names
BILATERAL PERISYLVIAN POLYMICROGYRIA Is also known as perisylvian syndrome, congenital bilateral, bpp, cbps, pmgx
Description
Polymicrogyria (PMG) is a malformation of cortical development in which the brain surface is irregular and the normal gyral pattern replaced by multiple small, partly fused gyri separated by shallow sulci. Microscopic examination shows a simplified 4-layered or unlayered cortex. Several patterns of PMG, including bilateral frontal, bilateral perisylvian, and bilateral mesial occipital PMG, have been described on the basis of their topographic distribution. All but the perisylvian form appear to be rare. Bilateral perisylvian PMG (BPP) often results in a typical clinical syndrome that is manifested by mild mental retardation, epilepsy, and pseudobulbar palsy, which causes difficulties with expressive speech and feeding (Kuzniecky et al., 1993).PMG may be a feature of other conditions as well (see, e.g., {300643}).
Most common symptoms of BILATERAL PERISYLVIAN POLYMICROGYRIA
- Intellectual disability
- Seizures
- Global developmental delay
- Cognitive impairment
- Delayed speech and language development
More info about BILATERAL PERISYLVIAN POLYMICROGYRIA
ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED; RESDX
Most common symptoms of ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED; RESDX
- Intellectual disability
- Seizures
- Delayed speech and language development
- Hyperreflexia
- Intellectual disability, mild
More info about ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED; RESDX
ROLANDIC EPILEPSY-SPEECH DYSPRAXIA SYNDROME
Description
Rolandic epilepsy-speech dyspraxia syndrome is a rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed.
More info about ROLANDIC EPILEPSY-SPEECH DYSPRAXIA SYNDROME
SOURCES: ORPHANET
Search interest in SRPX2
Potential gene panels for SRPX2 gene
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations that also includes the following genes: SHH STIL SIX3 TUBA8 SLC25A19 DEAF1 ARFGEF2 RAB3GAP1 CENPJ NDE1
More info about this panel United States.
Epilepsy Advanced Sequencing and CNV Evaluation Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5
More info about this panel United States.
Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability that also includes the following genes: SLC35A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SNAP25 CDKL5 SYN1 SYP
More info about this panel United States.
NGS XLID Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS XLID Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel United States.
Comprehensive Brain Malformation Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Brain Malformation Panel that also includes the following genes: SHH STIL SIX3 SLC9A6 SOX2 CDKL5 TGIF1 MED12 CEP41 TUBA8
More info about this panel United States.
Non-Specific Intellectual Disability Panel Panel
United States.
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 panel United States.
X-linked Non-Specific Intellectual Disability Panel Panel
United States.
By Genetic Services Laboratory University of Chicago X-linked Non-Specific Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS CDKL5 SYN1
More info about this panel United States.
Comprehensive Brain Malformations Panel Panel
United States.
By GeneDx Comprehensive Brain Malformations Panel that also includes the following genes: CEP41 TUBA8 VLDLR VRK1 TMEM237 CASK TSEN34 ARFGEF2 NDE1 FKRP
More info about this panel United States.
Cortical Brain Malformations Panel Panel
United States.
By GeneDx Cortical Brain Malformations Panel that also includes the following genes: TUBA8 VLDLR ARFGEF2 NDE1 FKRP ARX POMGNT1 POMT2 TUBA1A TUBB3
More info about this panel United States.
Comprehensive Epilepsy Panel Panel
United States.
By GeneDx Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SLC9A6 SPTAN1 CDKL5 STXBP1 SYN1
More info about this panel United States.
MECP2, SCN1B, GABRG2, LGI1, POLG, POLG2, SLC25A22, SPTAN1, SRPX2. NextGeneDx.Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica MECP2, SCN1B, GABRG2, LGI1, POLG, POLG2, SLC25A22, SPTAN1, SRPX2. NextGeneDx.Complete sequencing by NGS that also includes the following genes: SCN1B SPTAN1 SLC25A22 SRPX2 GABRG2 LGI1 MECP2 POLG POLG2
More info about this panel Spain.
Rolandic Epilepsy - SRPX2 Sequence Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the SRPX2 gene.
More info about this panel United States.
Rolandic Epilepsy - SRPX2 Known Point Mutation Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the SRPX2 gene.
More info about this panel United States.
Rolandic epilepsy, mental retardation and speech dyspraxia (sequence analysis of SRPX2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SRPX2 gene.
More info about this panel Portugal.
Mental retardation, X-linked (NGS panel for 89 genes) Panel
Portugal.
By CGC Genetics Mental retardation, X-linked (NGS panel for 89 genes) that also includes the following genes: RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
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.
X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics X-Linked Intellectual Disability Sequencing Panel with CNV Detection that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC35A2 SLC6A8 SLC7A3 SLC9A6 SMC1A KDM5C SMS
More info about this panel United States.
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE
More info about this panel United States.
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.
X-Linked Mental Retardation Panel
Germany.
By MGZ Medical Genetics Center X-Linked Mental Retardation that also includes the following genes: RPL10 RPS6KA3 SLC12A6 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3
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.
Polymicrogyria Panel
Germany.
By MGZ Medical Genetics Center Polymicrogyria that also includes the following genes: TUBA8 NSDHL NDE1 CHD7 TUBA1A TUBB3 TUBB KIF1BP WDR62 GPSM2
More info about this panel Germany.
SRPX2 Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the SRPX2 gene.
More info about this panel Netherlands.
Epileptic syndromes with epilepsy and intellectual disability panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht Epileptic syndromes with epilepsy and intellectual disability panel that also includes the following genes: SLC6A8 SLC9A6 SMC1A KDM5C SMS CDKL5 STXBP1 SYNGAP1 SYP TCF4
More info about this panel Netherlands.
Focal epilepsy panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht Focal epilepsy panel that also includes the following genes: SYN1 ELP4 KCNT1 CHRNA2 CHRNA4 CHRNB2 SRPX2 GRIN2A LGI1
More info about this panel Netherlands.
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.
Rolandic epilepsy, mental retardation, and speech dyspraxia Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SRPX2 gene.
More info about this panel Germany.
Single gene testing SRPX2 Panel
Germany.
By CeGaT GmbH
This panel specifically test the SRPX2 gene.
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.
Brain malformations Panel
Estonia.
By Asper Biogene Asper Biogene LLC Brain malformations that also includes the following genes: STIL SLC12A6 SNAP29 TCF4 CEP41 TUBB2A TUBG1 VLDLR VRK1 ACTB
More info about this panel Estonia.
EPILEPSY HEREDITARY PANEL Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases EPILEPSY HEREDITARY PANEL that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 CDKL5 STXBP1 CACNA1A CACNA1H
More info about this panel Spain.
Epileptic encephalopathies Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Epileptic encephalopathies that also includes the following genes: SCN1A SCN2A SCN8A ST3GAL3 SLC2A1 SPTAN1 CDKL5 STXBP1 TREX1 WWOX
More info about this panel Spain.
XLMR with Rolandic Epilepsy and Speech Dyspraxia: SRPX2 Full Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the SRPX2 gene.
More info about this panel United States.
XLMR with Rolandic Epilepsy and Speech Dyspraxia: SRPX2 Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the SRPX2 gene.
More info about this panel United States.
Epilepsy and Seizure Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Epilepsy and Seizure Disorders: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panel United States.
Brain Malformations: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Brain Malformations: Sequencing Panel that also includes the following genes: CEP41 TUBA8 VLDLR VRK1 ACTB ACTG1 TMEM237 CASK TSEN34 ARFGEF2
More info about this panel United States.
Neurology: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neurology: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL SIX3
More info about this panel United States.
Brain Malformations: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Brain Malformations: Deletion/Duplication Panel that also includes the following genes: CEP41 TUBA8 VLDLR VRK1 ACTB ACTG1 TMEM237 CASK TSEN34 ARFGEF2
More info about this panel United States.
Epilepsy and Seizure Disorders: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Epilepsy and Seizure Disorders: Deletion/Duplication Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
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.
Intellectual Disability NGS Panel Panel
United States.
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 panel United States.
Polymicrogyria NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Polymicrogyria NGS Panel that also includes the following genes: TUBA8 TUBA1A TUBB3 KIF1BP SRPX2 TUBB2B ADGRG1
More info about this panel United States.
XLID NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics XLID NGS Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel United States.
SRPX2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SRPX2 gene.
More info about this panel United States.
Idiopathic Generalized Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Idiopathic Generalized Epilepsy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC9A6 SMC1A KDM5C CDKL5
More info about this panel United States.
Early-Onset Epileptic Encephalopathy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Early-Onset Epileptic Encephalopathy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC25A12
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.
X-chromosome High Resolution microarray analysis Panel
United States.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2
More info about this panel United States.
X-linked Intellectual Disability Panel Panel
Finland.
By Blueprint Genetics X-linked Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5
More info about this panel Finland.
Polymicrogyria Panel Panel
Finland.
By Blueprint Genetics Polymicrogyria Panel that also includes the following genes: TUBA8 TUBB2A NSDHL RAB18 NDE1 TUBA1A TUBB3 KIF1BP WDR62 GPSM2
More info about this panel Finland.
Neuronal Migration Disorder Panel Panel
Finland.
By Blueprint Genetics Neuronal Migration Disorder Panel that also includes the following genes: MED12 TUBA8 TUBB2A TUBG1 VLDLR YWHAE ACTB NSDHL RXYLT1 RAB18
More info about this panel Finland.
POLYMICROGYRIA, BILATERAL PERISYLVIAN Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the SRPX2 gene.
More info about this panel Spain.
Familial Epilepsy and Related Disorders , Panel Massive Sequencing (NGS) 34 Genes Panel
Spain.
By Reference Laboratory Genetics Familial Epilepsy and Related Disorders , Panel Massive Sequencing (NGS) 34 Genes that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 CDKL5 STXBP1 CACNA1A CACNA1H
More info about this panel Spain.
Polymicrogyria , Panel Massive Sequencing (NGS) 10 Genes Panel
Spain.
By Reference Laboratory Genetics Polymicrogyria , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: TUBA8 FIG4 TUBA1A TUBB3 SRPX2 TUBB2B AKT3 ADGRG1 OCLN PIK3R2
More info about this panel Spain.
Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes Panel
Spain.
By Reference Laboratory Genetics Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes that also includes the following genes: TUBA8 VLDLR ACTB ACTG1 CASK ARFGEF2 NDE1 FKRP ARX ASPM
More info about this panel Spain.
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