GPSM2 gene related symptoms and diseases
All the information presented here about the GPSM2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GPSM2 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Uncommon - Between 30% and 50% cases |
Bilateral sensorineural hearing impairment | Uncommon - Between 30% and 50% cases |
Gray matter heterotopias | Uncommon - Between 30% and 50% cases |
Dysplastic corpus callosum | Uncommon - Between 30% and 50% cases |
Prelingual sensorineural hearing impairment | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with GPSM2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Cerebellar dysplasia
- Colpocephaly
- Arachnoid cyst
- Severe sensorineural hearing impairment
- Partial agenesis of the corpus callosum
- Cortical dysplasia
- Congenital sensorineural hearing impairment
- Heterotopia
And 15 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GPSM2 gene
Here you will find a list of rare diseases related to the GPSM2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CHUDLEY-MCCULLOUGH SYNDROME
Alternate names
CHUDLEY-MCCULLOUGH SYNDROME Is also known as dfnb82, formerly, deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts, deafness, autosomal recessive 82, formerly
Description
Chudley-McCullough syndrome is a rare, genetic, syndromic deafness characterized by severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heteropia) and, in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated.
Most common symptoms of CHUDLEY-MCCULLOUGH SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Hearing impairment
- Sensorineural hearing impairment
More info about CHUDLEY-MCCULLOUGH SYNDROME
AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB
Alternate names
AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB Is also known as autosomal recessive isolated sensorineural deafness type dfnb, autosomal recessive isolated neurosensory deafness type dfnb, autosomal recessive non-syndromic neurosensory deafness type dfnb
More info about AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB
SOURCES: ORPHANET
Search interest in GPSM2
Potential gene panels for GPSM2 gene
NGS Hearing Loss Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Hearing Loss Panel that also includes the following genes: SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TJP2 TMPRSS3 USH1C USH2A
More info about this panelOtoSCOPE Panel
By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics OtoSCOPE that also includes the following genes: ROR1 SIX1 SIX5 SLC22A4 SNAI2 SMPX SOX10 TBX1 TWNK TCOF1
More info about this panelHearing Loss Panel Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Hearing Loss Panel that also includes the following genes: RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10 BTD
More info about this panelPolymicrogyria Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Polymicrogyria Deletion/Duplication Panel that also includes the following genes: TUBA8 RAB18 CCND2 TBC1D20 RAB3GAP1 RAB3GAP2 NDE1 RTTN TUBA1A TUBB3
More info about this panelCerebral Cortical Malformation Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Cerebral Cortical Malformation Sequencing Panel that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RAB18 ACTG1 B3GNT2 B4GAT1
More info about this panelPolymicrogyria Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Polymicrogyria Sequencing Panel that also includes the following genes: TUBA8 RAB18 CCND2 TBC1D20 RAB3GAP1 RAB3GAP2 NDE1 RTTN TUBA1A TUBB3
More info about this panelCerebral Cortical Malformations Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Cerebral Cortical Malformations Deletion/Duplication Panel that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RAB18 ACTG1 B3GNT2 B4GAT1
More info about this panelOtoGenome Test for Hearing Loss (110 Genes) Panel
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine OtoGenome Test for Hearing Loss (110 Genes) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TMPRSS3 USH1C USH2A
More info about this panelExpanded Hearing Loss Panel, Sequencing and Deletion/Duplication Panel
By ARUP Laboratories, Molecular Genetics and Genomics Expanded Hearing Loss Panel, Sequencing and Deletion/Duplication that also includes the following genes: SMPX TECTA TMPRSS3 USH1C USH2A CLRN1 WFS1 ESPN CDH23 ACTG1
More info about this panelGPSM2. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GPSM2 gene.
More info about this panelAudiome (hearing loss panel) Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Audiome (hearing loss panel) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 SUCLA2 TECTA TIMM8A TMPRSS3 USH1C
More info about this panelChudley-McCullough syndrome (sequence analysis of GPSM2 gene) Panel
By CGC Genetics
This panel specifically test the GPSM2 gene.
More info about this panelNon syndromic deafness AR and XL (NGS panel for 56 genes) Panel
By CGC Genetics Non syndromic deafness AR and XL (NGS panel for 56 genes) that also includes the following genes: SLC12A1 SMPX TECTA TMPRSS3 USH1C TSPEAR ESPN CLIC5 CDH23 CABP2
More info about this panelSyndromic and non syndromic deafness (NGS panel for 127 genes) Panel
By CGC Genetics Syndromic and non syndromic deafness (NGS panel for 127 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SNAI2 SMPX SOX10 TCOF1 TECTA
More info about this panelNon syndromic deafness AD, AR and XL (NGS panel for 79 genes) Panel
By CGC Genetics Non syndromic deafness AD, AR and XL (NGS panel for 79 genes) that also includes the following genes: SIX1 SLC12A1 SMPX TECTA TJP2 TMPRSS3 USH1C TSPEAR WFS1 ESPN
More info about this panelNonsyndromic Hearing Loss and Deafness Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Nonsyndromic Hearing Loss and Deafness Sequencing Panel with CNV Detection that also includes the following genes: SMPX TECTA TJP2 TMPRSS3 OTOA TMC1 TRIOBP CCDC50 GIPC3 SLC17A8
More info about this panelChudley-Mccullough Syndrome (CMCS) and Deafness, Autosomal Recessive 82 (DFNB82) via GPSM2 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the GPSM2 gene.
More info about this panelMacrocephaly Panel
By MGZ Medical Genetics Center Macrocephaly that also includes the following genes: SYN1 MED12 TSC1 TSC2 NSD1 CCND2 RAB39B MLC1 BRWD3 CDKN1C
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 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 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 panelPolymicrogyria Panel
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 panelChudley-McCullough syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the GPSM2 gene.
More info about this panelCentoICU platinum plus Panel
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 panelNew Born testing (CentoICU) Panel
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 panelDeafness, non-syndromic sensorineural AR panel Panel
By Centogene AG - the Rare Disease Company Deafness, non-syndromic sensorineural AR panel that also includes the following genes: SLC12A1 SMPX TECTA TMPRSS3 USH1C ESPN CDH23 PCDH15 STRC WHRN
More info about this panelHearing Loss, nonsyndromic, autosomal recessive and X-linked Panel Panel
By CeGaT GmbH Hearing Loss, nonsyndromic, autosomal recessive and X-linked Panel that also includes the following genes: SMPX TECTA TMPRSS3 USH1C TSPEAR ESPN CLIC5 CDH23 CABP2 PCDH15
More info about this panelSingle gene testing GPSM2 Panel
By CeGaT GmbH
This panel specifically test the GPSM2 gene.
More info about this panelSensorineural Hearing Loss Panel
By Asper Biogene Asper Biogene LLC Sensorineural Hearing Loss that also includes the following genes: SIX1 SMPX TECTA TJP2 TMPRSS3 USH1C USH2A CLRN1 WFS1 ESPN
More info about this panelBrain malformations Panel
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 panelDEAFNESS A.D. and A.R. Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DEAFNESS A.D. and A.R. that also includes the following genes: TECTA TJP2 TMPRSS3 USH1C WFS1 CDH23 ACTG1 PCDH15 WHRN BSND
More info about this panelDEAFNESS A.R. (39 genes) Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DEAFNESS A.R. (39 genes) that also includes the following genes: TECTA TMPRSS3 USH1C CDH23 PCDH15 WHRN BSND TMC1 TRIOBP GIPC3
More info about this panelHearing Loss: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Sequencing Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SIX5 SMPX SOX10 BTD TCOF1 TECTA TIMM8A
More info about this panelHearing Loss: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Deletion/Duplication Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SMPX BTD TECTA TIMM8A TJP2 TMPRSS3 USH1C
More info about this panelHearing Loss NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Hearing Loss NGS Panel that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TBL1X TCF21 TECTA TIMM8A TJP2
More info about this panelGPSM2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GPSM2 gene.
More info about this panelComprehensive Hearing Loss and Deafness Panel Panel
By Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel that also includes the following genes: BCS1L RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10
More info about this panelNon-Syndromic Hearing Loss Panel Panel
By Blueprint Genetics Non-Syndromic Hearing Loss Panel that also includes the following genes: SIX1 SMPX TECTA TJP2 TMPRSS3 USH1C TSPEAR WBP2 WFS1 ESPN
More info about this panelMacrocephaly / Overgrowth Syndrome Panel Panel
By Blueprint Genetics Macrocephaly / Overgrowth Syndrome Panel that also includes the following genes: SYN1 MED12 TSC1 TSC2 NSD1 CCND2 RAB39B MLC1 BRWD3 CDKN1C
More info about this panelPolymicrogyria Panel Panel
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 panelNeuronal Migration Disorder Panel Panel
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 panelChudley-McCullough syndrome Panel
By Bioarray
This panel specifically test the GPSM2 gene.
More info about this panelOtogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Panel
By Otogenetics Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel that also includes the following genes: BCS1L SIX1 SIX5 SNAI2 SMPX SOX2 TBL1X TCF21 TECTA TFCP2
More info about this panelDEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL RECESSIVE) NGS PANEL Panel
By Laboratorio de Genetica Clinica SL DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL RECESSIVE) NGS PANEL that also includes the following genes: SLC12A1 SMPX TECTA TMPRSS3 USH1C TSPEAR WBP2 CLIC5 CDH23 CABP2
More info about this panelChudley-McCullough Syndrome , Sequencing GPSM2 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the GPSM2 gene.
More info about this panelAutosomal Recessive Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 39 Genes Panel
By Reference Laboratory Genetics Autosomal Recessive Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 39 Genes that also includes the following genes: TECTA TMPRSS3 USH1C CDH23 PCDH15 WHRN BSND TMC1 TRIOBP GIPC3
More info about this panelMalformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes Panel
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
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