TIMM8A gene related symptoms and diseases
All the information presented here about the TIMM8A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TIMM8A gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Gait ataxia | Very Common - Between 80% and 100% cases |
Basal ganglia gliosis | Very Common - Between 80% and 100% cases |
Abnormal posturing | Very Common - Between 80% and 100% cases |
Agammaglobulinemia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TIMM8A gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Optic neuropathy
- Progressive sensorineural hearing impairment
- Constriction of peripheral visual field
- Increased susceptibility to fractures
- Abnormal electroretinogram
- Cerebral visual impairment
- Neuronal loss in central nervous system
- Gliosis
And 21 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TIMM8A gene
Here you will find a list of rare diseases related to the TIMM8A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MOHR-TRANEBJAERG SYNDROME
Alternate names
MOHR-TRANEBJAERG SYNDROME Is also known as deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency, deafness-dystonia-optic atrophy syndrome, deafness-dystonia-optic neuronopathy syndrome, dystonia-deafness syndrome, ddon syndrome, opticoacoustic nerve atrophy with de
Description
Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.
Most common symptoms of MOHR-TRANEBJAERG SYNDROME
- Intellectual disability
- Hearing impairment
- Sensorineural hearing impairment
- Spasticity
- Visual impairment
More info about MOHR-TRANEBJAERG SYNDROME
Search interest in TIMM8A
Potential gene panels for TIMM8A gene
MitoMet®Plus aCGH Analysis Panel
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panelTIMM8A Sequence Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the TIMM8A gene.
More info about this panelTIMM8A Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the TIMM8A gene.
More info about this panelTIMM8A Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the TIMM8A gene.
More info about this panelTIMM8A Comprehensive - Sequence & Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the TIMM8A gene.
More info about this panelHearing Loss Advanced Sequencing and CNV Evaluation Panel
By Athena Diagnostics Inc Hearing Loss Advanced Sequencing and CNV Evaluation that also includes the following genes: BCS1L ROR1 SALL1 SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SLC22A4 SNAI2
More info about this panelNGS XLID Panel Panel
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 panelNGS 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 panelComprehensive Mitochondrial Metabolic Panel Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Mitochondrial Metabolic Panel that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3
More info about this panelDystonia Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dystonia that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH
More info about this panelMovement Disorders Panel Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Movement Disorders Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SNCA SPR SQSTM1 SUCLA2 SUOX
More info about this panelX-Linked Intellectual Disabilities Deletion/Duplication Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-Linked Intellectual Disabilities Deletion/Duplication that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panelX-linked Intellectual Disabilities Sequencing Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-linked Intellectual Disabilities Sequencing that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panelX-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panelDystonia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8
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 panelMitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel
By ARUP Laboratories, Molecular Genetics and Genomics Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3
More info about this panelDeafness-Dystonia-Optic Neuronopathy Syndrome Panel
By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague
This panel specifically test the TIMM8A gene.
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 panelTIMM8A gene seqeuence and deletion/duplication Panel
By Ambry Genetics
This panel specifically test the TIMM8A gene.
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 panelTIMM8A. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the TIMM8A gene.
More info about this panelTIMM8A. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the TIMM8A 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 panelSyndromic deafness (NGS panel for 62 genes) Panel
By CGC Genetics Syndromic deafness (NGS panel for 62 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR
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 panelMohr-Tranebjaerg syndrome (sequence analysis of TIMM8A gene) Panel
By CGC Genetics
This panel specifically test the TIMM8A gene.
More info about this panelHereditary dementias (NGS panel for 28 genes) Panel
By CGC Genetics Hereditary dementias (NGS panel for 28 genes) that also includes the following genes: SNCA SNCB SORL1 TARDBP TIMM8A TUBA4A TYROBP UBQLN2 VCP CHCHD10
More info about this panelMental retardation, X-linked (NGS panel for 89 genes) Panel
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 panelDystonia (NGS panel for 43 genes) Panel
By CGC Genetics Dystonia (NGS panel for 43 genes) that also includes the following genes: SGCE SLC2A1 SLC6A3 SMPD1 SPR TAF1 TH TIMM8A ACTB CACNA1B
More info about this panelComprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelDeafness-Dystonia-Optic Neuronopathy (Mohr-Tranebjaerg/Jensen) Syndrome via TIMM8A Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the TIMM8A gene.
More info about this panelOptic Atrophy Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Optic Atrophy Sequencing Panel with CNV Detection that also includes the following genes: SLC24A1 SPG7 ACO2 TIMM8A WFS1 MFN2 CISD2 TMEM126A MTPAP C12orf65
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 panelNeurogenetic Disorders - panels Panel
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
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 panelX-Linked Mental Retardation Panel
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 panelEpilepsy and Mitochondrial Encephalopathy Panel
By MGZ Medical Genetics Center Epilepsy and Mitochondrial Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panelMitochondrial Diseases Panel
By MGZ Medical Genetics Center Mitochondrial Diseases that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC22A5 SLC25A12
More info about this panelMitochondrial Encephalopathy Panel
By MGZ Medical Genetics Center Mitochondrial Encephalopathy that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC25A12 SLC25A3
More info about this panelEpilepsy Panel
By MGZ Medical Genetics Center Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panelMitochondrial Deafness Panel
By MGZ Medical Genetics Center Mitochondrial Deafness that also includes the following genes: SUCLA2 SUCLG1 TIMM8A WFS1 RMND1 PNPT1 HARS2 SLC33A1
More info about this panelComprehensive mitochondrial disorders panel Panel
By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC
More info about this panelDystonia-deafness syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the TIMM8A 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 panelJensen syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the TIMM8A gene.
More info about this panelOpticoacoustic nerve atrophy with dementia Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the TIMM8A gene.
More info about this panelMohr-Tranebjaerg syndrome Panel
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet
This panel specifically test the TIMM8A gene.
More info about this panelSyndromic Hearing Loss Panel Panel
By CeGaT GmbH Syndromic Hearing Loss Panel that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR
More info about this panelHereditary Degenerative Syndromes Panel Panel
By CeGaT GmbH Hereditary Degenerative Syndromes Panel that also includes the following genes: ATXN2 ATXN7 SLC16A2 SLC25A15 SLC6A3 SMPD1 SUCLA2 TAF1 TBP TIMM8A
More info about this panelNuclear encoded Mitochondriopathies Panel Panel
By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panelOptic Atrophy Panel Panel
By CeGaT GmbH Optic Atrophy Panel that also includes the following genes: SPG7 ACO2 TIMM8A VAX2 WFS1 MFN2 RTN4IP1 CISD2 SLC25A46 TMEM126A
More info about this panelDystonia All Panel Panel
By CeGaT GmbH Dystonia All Panel that also includes the following genes: SGCE SLC25A15 SLC2A1 SPR TAF1 TH TIMM8A CACNA1B ANO3 NPC2
More info about this panelSingle gene testing TIMM8A Panel
By CeGaT GmbH
This panel specifically test the TIMM8A gene.
More info about this panelMitochondrial Diseases (mtDNA and 133 nuclear genes) Panel
By Asper Biogene Asper Biogene LLC Mitochondrial Diseases (mtDNA and 133 nuclear genes) that also includes the following genes: BCS1L SCO1 SCO2 SDHA SLC25A4 SLC6A8 SOD1 SPG7 SUCLA2 SUCLG1
More info about this panelDystonia Panel
By Asper Biogene Asper Biogene LLC Dystonia that also includes the following genes: SGCE SLC25A1 SLC2A1 SLC6A3 SPR TAF1 TBCE TH TIMM8A ACTB
More info about this panelEye diseases comprehensive panel Panel
By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelRetinal Dystrophy Panel Panel
By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelMVL Vision Panel Panel
By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelqChip Panel
By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1
More info about this panelMohr-Tranebjaerg syndrome: TIMM8A gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the TIMM8A gene.
More info about this panelOptic atrophy Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Optic atrophy that also includes the following genes: SPG7 TIMM8A WFS1 MFN2 CISD2 TMEM126A C12orf65 NDUFS1 OPA1 OPA3
More info about this panelDeafness-Dystonia-Optic Neuronopathy Syndrome: TIMM8A Gene Sequencing Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the TIMM8A gene.
More info about this panelDeafness-Dystonia-Optic Neuronopathy Syndrome: TIMM8A Gene Deletion/Duplication Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the TIMM8A gene.
More info about this panelEye Disorders: Comprehensive Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Comprehensive Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panelOptic Atrophy: Sequencing and Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Optic Atrophy: Sequencing and Deletion/Duplication Panel that also includes the following genes: TIMM8A MFN2 TMEM126A OPA1 OPA3
More info about this panelX-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
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 panelRetina/Photoreceptor Dystrophy: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Retina/Photoreceptor Dystrophy: Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4
More info about this panelDystonia: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dystonia: Sequencing Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH
More info about this panelEye Disorders: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Deletion/Duplication Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
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 panelEye Disorders NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Eye Disorders NGS Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4
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 panelNuclear-Mito NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panelXLID NGS Panel Panel
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 panelTIMM8A Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TIMM8A gene.
More info about this panelX-chromosome High Resolution microarray analysis Panel
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 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 panelRetinal Dystrophy Panel Panel
By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4
More info about this panelX-linked Intellectual Disability Panel Panel
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 panelNeuro-Ophthalmology Panel Panel
By Blueprint Genetics Neuro-Ophthalmology Panel that also includes the following genes: SLC25A4 SOX2 SPG7 TWNK ACO2 TIMM8A TK2 WFS1 ROBO3 SALL4
More info about this panelSyndromic Hearing Loss Panel Panel
By Blueprint Genetics Syndromic Hearing Loss Panel that also includes the following genes: BCS1L SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 BTD TWNK
More info about this panelOptic Atrophy Panel Panel
By Blueprint Genetics Optic Atrophy Panel that also includes the following genes: SPG7 ACO2 TIMM8A WFS1 SNX10 MFN2 RTN4IP1 CISD2 SLC25A46 TMEM126A
More info about this panelComprehensive Metabolism Panel Panel
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panelMitochondrial DNA Depletion Syndrome Panel Panel
By Blueprint Genetics Mitochondrial DNA Depletion Syndrome Panel that also includes the following genes: SLC25A3 SLC25A4 SPG7 SUCLA2 SUCLG1 TWNK TIMM8A TK2 WFS1 FBXL4
More info about this panelJensen syndrome Panel
By Bioarray
This panel specifically test the TIMM8A gene.
More info about this panelMohr-Tranebjaerg syndrome Panel
By Bioarray
This panel specifically test the TIMM8A gene.
More info about this panelRapid microarray (CGH and SNP) Panel
By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panelHigh-Resolution Rapid Microarray (CGH and SNP) Panel
By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
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 panelMOHR-TRANEBJAERG SYNDROME Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the TIMM8A gene.
More info about this panelOPTIC ATROPHY NGS PANEL Panel
By Laboratorio de Genetica Clinica SL OPTIC ATROPHY NGS PANEL that also includes the following genes: SPG7 ACO2 TIMM8A WFS1 MFN2 RTN4IP1 CISD2 SLC25A46 TMEM126A C12orf65
More info about this panelMohr-Tranebjaerg Syndrome , Sequencing TIMM8A Gene Panel
By Reference Laboratory Genetics
This panel specifically test the TIMM8A gene.
More info about this panelX-Linked Hereditary Deafness , Panel Massive Sequencing (NGS) 7 Genes Panel
By Reference Laboratory Genetics X-Linked Hereditary Deafness , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: SMPX TIMM8A COL4A5 COL4A6 AIFM1 POU3F4 PRPS1
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