KCTD7 gene related symptoms and diseases
All the information presented here about the KCTD7 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to KCTD7 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Myoclonus | Very Common - Between 80% and 100% cases |
Intracellular accumulation of autofluorescent lipopigment storage material | Very Common - Between 80% and 100% cases |
Truncal ataxia | Very Common - Between 80% and 100% cases |
Cutaneous photosensitivity | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with KCTD7 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Status epilepticus
- Generalized myoclonic seizures
- Neurodegeneration
- Retinopathy
- Developmental regression
- Visual loss
- Seizures
- Absent speech
And 9 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to KCTD7 gene
Here you will find a list of rare diseases related to the KCTD7. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3
Alternate names
PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3 Is also known as progressive myoclonus epilepsy type 3, cln14, progressive myoclonic epilepsy due to kctd7 deficiency, epm3, pme type 3, cln14 disease, ceroid lipofuscinosis, neuronal, 14
Description
A rare, genetic, neuronal ceroid lipofuscinosis disorder characterized by infantile- to early childhood-onset of progressive myoclonic seizures (occasionally accompanied by generalized tonic-clonic seizures) and severe, progressive neurological regression, leading to psychomotor and cognitive decline, cerebellar ataxia, dementia and, frequently, early death. Vision loss may be associated. EEG typically reveals epileptiform activity with predominance in the posterior region and photosensitivity.
Most common symptoms of PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3
- Intellectual disability
- Seizures
- Microcephaly
- Scoliosis
- Ataxia
More info about PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3
Search interest in KCTD7
Potential gene panels for KCTD7 gene
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN9A ST3GAL5 SLC2A1 SLC35A2 SLC6A1
More info about this panelEpilepsy Advanced Sequencing and CNV Evaluation - Neuronal Ceroid Lipofuscinosis Panel
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Neuronal Ceroid Lipofuscinosis that also includes the following genes: DNAJC5 TPP1 CLN3 CLN5 CLN6 CLN8 KCTD7 CTSD CTSF MFSD8
More info about this panelEpilepsy Advanced Sequencing and CNV Evaluation Panel
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 panelNGS Epilepsy/Seizure Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Epilepsy/Seizure Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panelChildhood Epilepsy Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Childhood Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SLC2A1 SLC9A6 CDKL5 SYN1 UBE3A CNTNAP2 CACNB4
More info about this panelEpilepsy/Seizure Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Epilepsy/Seizure that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A8 SLC9A6 BTD SPTAN1
More info about this panelInfantile Epilepsy Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Infantile Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SLC6A8 SLC9A6 BTD SPTAN1 CDKL5
More info about this panelAtaxia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panelEpilepsy Panel - Comprehensive Panel
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Epilepsy Panel - Comprehensive that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A8 SLC9A6 SPTAN1 CDKL5
More info about this panelComprehensive Epilepsy Panel Panel
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 panelInfantile Epilepsy Panel Panel
By GeneDx Infantile Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SLC9A6 SPTAN1 CDKL5 STXBP1 TCF4
More info about this panelChildhood-Onset Epilepsy Panel Panel
By GeneDx Childhood-Onset Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SLC2A1 SLC9A6 CDKL5 SYN1 TCF4 UBE3A CNTNAP2
More info about this panelProgressive Myoclonic Epilepsy Panel Panel
By GeneDx Progressive Myoclonic Epilepsy Panel that also includes the following genes: DNAJC5 SCARB2 PRICKLE1 TPP1 CLN3 CLN5 CLN6 CLN8 NHLRC1 KCTD7
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 panelEpilepsyNext Panel
By Ambry Genetics EpilepsyNext that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC9A6 SMC1A
More info about this panelEpiRapid reflex EpilepsyNext Panel
By Ambry Genetics EpiRapid reflex EpilepsyNext that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC9A6 SMC1A
More info about this panelKCTD7. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the KCTD7 gene.
More info about this panelCHOP Epilepsy Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC6A8 SPTAN1
More info about this panelEpilepsy, progressive myoclonic 3 (sequence analysis of KCTD7 gene) Panel
By CGC Genetics
This panel specifically test the KCTD7 gene.
More info about this panelEarly Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC2A1 SLC35A2 SLC9A6
More info about this panelComprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel
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 panelNeuronal Ceroid Lipofuscinosis 14 via KCTD7 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the KCTD7 gene.
More info about this panelNeuronal Ceroid Lipofuscinoses (Batten Disease) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Neuronal Ceroid Lipofuscinoses (Batten Disease) Sequencing Panel with CNV Detection that also includes the following genes: DNAJC5 TPP1 CLN3 CLN5 CLN6 CLN8 KCTD7 CTSD CTSF MFSD8
More info about this panelEpilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel
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 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 panelEpileptic Encephalopathy Panel
By MGZ Medical Genetics Center Epileptic Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SGCE SLC2A1 SPTAN1 CDKL5 STXBP1 SYNGAP1
More info about this panelProgressive Myoclonic Epilepsy Panel
By MGZ Medical Genetics Center Progressive Myoclonic Epilepsy that also includes the following genes: SGCE CACNB4 NPC2 CASR EFHC1 SCARB2 PRICKLE1 PRICKLE2 TPP1 CLN3
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 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 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 panelEPM3 Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the KCTD7 gene.
More info about this panelProgressive myoclonic epilepsy panel Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht Progressive myoclonic epilepsy panel that also includes the following genes: SCARB2 PRICKLE1 PRICKLE2 NHLRC1 KCTD7 CSTB EPM2A ASAH1
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 panelProgressive myoclonus epilepsy type 3 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the KCTD7 gene.
More info about this panelNeuronal Ceroid Lipofuscinosis and Progressive Myoclonic Epilepsy Panel Panel
By CeGaT GmbH Neuronal Ceroid Lipofuscinosis and Progressive Myoclonic Epilepsy Panel that also includes the following genes: DNAJC5 SCARB2 PRICKLE1 PRICKLE2 TPP1 CLN3 CLN5 CLN6 CLN8 NHLRC1
More info about this panelNeuronal Ceroidlipofuscinosis (NCL) Panel Panel
By CeGaT GmbH Neuronal Ceroidlipofuscinosis (NCL) Panel that also includes the following genes: DNAJC5 TPP1 CLN3 CLN5 CLN6 CLN8 KCTD7 CTSD CTSF MFSD8
More info about this panelSingle gene testing KCTD7 Panel
By CeGaT GmbH
This panel specifically test the KCTD7 gene.
More info about this panelEpilepsy Panel
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 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 panelKCTD7 Panel
By Division Human Genetics Medical University Innsbruck
This panel specifically test the KCTD7 gene.
More info about this panelInvitae Epilepsy Panel Panel
By Invitae Invitae Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SGCE SLC2A1 SLC35A2 SLC6A1
More info about this panelInvitae Comprehensive Neuronal Ceroid Lipofuscinoses Panel Panel
By Invitae Invitae Comprehensive Neuronal Ceroid Lipofuscinoses Panel that also includes the following genes: TPP1 CLN3 CLN5 CLN6 CLN8 KCTD7 CTSD MFSD8 PPT1
More info about this panelInvitae Comprehensive Lysosomal Storage Disorders Panel Panel
By Invitae Invitae Comprehensive Lysosomal Storage Disorders Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5
More info about this panelNeuronal Ceroid-Lipofuscinoses Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Neuronal Ceroid-Lipofuscinoses that also includes the following genes: DNAJC5 TPP1 CLN3 CLN5 CLN6 CLN8 KCTD7 CTSD CTSF MFSD8
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 panelNeuronal Ceroid-Lipofuscinoses: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neuronal Ceroid-Lipofuscinoses: Sequencing Panel that also includes the following genes: TPP1 CLN3 CLN5 CLN6 CLN8 KCTD7 CTSD MFSD8 GRN PPT1
More info about this panelEpilepsy and Seizure Disorders: Sequencing Panel Panel
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 panelLysosomal Storage Disorders: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Lysosomal Storage Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SMPD1 ADAMTS10 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3
More info about this panelNeurology: Sequencing Panel Panel
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 panelEpilepsy and Seizure Disorders: Deletion/Duplication Panel Panel
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 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 panelEpilepsy NGS Panel Panel
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 panelIntellectual Disability NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panelNeuronal Ceroid Lipofuscinoses NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Neuronal Ceroid Lipofuscinoses NGS Panel that also includes the following genes: DNAJC5 TPP1 CLN3 CLN5 CLN6 CLN8 KCTD7 CTSD MFSD8 PPT1
More info about this panelKCTD7 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KCTD7 gene.
More info about this panelIdiopathic Generalized Epilepsy NGS Panel Panel
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 panelEarly-Onset Epileptic Encephalopathy NGS Panel Panel
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 panelComprehensive Epilepsy NGS Panel Panel
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 panelNCL and Progressive Myoclonic Epilepsy Panel Panel
By Blueprint Genetics NCL and Progressive Myoclonic Epilepsy Panel that also includes the following genes: CERS1 DNAJC5 SCARB2 PRICKLE1 TPP1 CLN3 CLN5 CLN6 CLN8 FARS2
More info about this panelComprehensive Epilepsy Panel Panel
By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1
More info about this panelEpilepsy, progressive myoclonic 3, with or without intracellular inclusions Panel
By Bioarray
This panel specifically test the KCTD7 gene.
More info about this panelPROGRESSIVE MYOCLONIC EPILEPSY TYPE 3 Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the KCTD7 gene.
More info about this panelPROGRESSIVE MYOCLONIC EPILEPSY/GEFs+ NGS PANEL Panel
By Laboratorio de Genetica Clinica SL PROGRESSIVE MYOCLONIC EPILEPSY/GEFs+ NGS PANEL that also includes the following genes: SCN1A SCN1B SCN2A SCN9A SGCE SLC6A1 STXBP1 CACNB4 CERS1 PCDH19
More info about this panelNEURONAL CEROID LIPOFUSCINOSIS NGS PANEL Panel
By Laboratorio de Genetica Clinica SL NEURONAL CEROID LIPOFUSCINOSIS NGS PANEL that also includes the following genes: DNAJC5 TPP1 CLN3 CLN5 CLN6 CLN8 KCTD7 CTSD CTSF MFSD8
More info about this panelProgressive Myoclonic Epilepsy Type 3 with or without Intracellular Inclusions , Sequencing KCTD7 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the KCTD7 gene.
More info about this panelNeuronal Ceroid Lipofuscinoses , Panel Massive Sequencing (NGS) 11 Genes Panel
By Reference Laboratory Genetics Neuronal Ceroid Lipofuscinoses , Panel Massive Sequencing (NGS) 11 Genes that also includes the following genes: DNAJC5 TPP1 CLN3 CLN5 CLN6 CLN8 KCTD7 CTSD MFSD8 GRN
More info about this panelStorage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes Panel
By Reference Laboratory Genetics Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like BIVM-ERCC5 NNT CTRC VWA3B KDM2B CYP3A5 UVSSA