SGCE gene related symptoms and diseases

All the information presented here about the SGCE 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 SGCE gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Involuntary movements Very Common - Between 80% and 100% cases
Limb myoclonus Very Common - Between 80% and 100% cases
Panic attack Very Common - Between 80% and 100% cases
Cortical myoclonus Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SGCE gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Agoraphobia
  • Retrocollis
  • Personality disorder
  • Axial dystonia
  • Writer's cramp
  • Torsion dystonia
  • Laryngeal dystonia
  • Obsessive-compulsive behavior

And 16 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to SGCE gene

Here you will find a list of rare diseases related to the SGCE. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MYOCLONUS-DYSTONIA SYNDROME


Alternate names

MYOCLONUS-DYSTONIA SYNDROME Is also known as myoclonic dystonia, hereditary essential myoclonus, dystonia, alcohol-responsive, myoclonus-dystonia syndrome, myoclonus, hereditary essential, alcohol-responsive dystonia

Description

Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.

Most common symptoms of MYOCLONUS-DYSTONIA SYNDROME

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Cognitive impairment
  • Tremor


More info about MYOCLONUS-DYSTONIA SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for SGCE gene

SGCE Deletion Analysis (DYT11) Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the SGCE gene.

More info about this panel

SGCE Sequencing Test (DYT11) Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the SGCE gene.

More info about this panel

Neuromuscular Disorders Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG SLC25A4 SUCLA2

More info about this panel

Comprehensive Neuromuscular Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Neuromuscular Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP

More info about this panel

Dystonia Panel

United States.

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 panel

Movement Disorders Panel Panel

United States.

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 panel

SGCE Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the SGCE gene.

More info about this panel

SGCE Deletion/duplication analysis Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the SGCE gene.

More info about this panel

Dystonia Exome Panel Panel

United States.

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 panel

Myoclonus Dystonia Panel

New Zealand.

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital

This panel specifically test the SGCE gene.

More info about this panel

SGCE Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the SGCE gene.

More info about this panel

Silver-Russel Syndrome (UPD7) Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Silver-Russel Syndrome (UPD7) that also includes the following genes: SGCE GRB10 MEST

More info about this panel

SGCE. Sequencing of the exons 1, 2, 3, 4, 5, 6, 7 and 9 Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the SGCE gene.

More info about this panel

SGCE. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the SGCE gene.

More info about this panel

Myoclonus-Dystonia (deletion/duplication analysis of SGCE gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SGCE gene.

More info about this panel

Myoclonus-Dystonia (sequence analysis of SGCE gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SGCE gene.

More info about this panel

Sarcoglycanopathies (NGS panel for 5 genes) Panel

Portugal.

By CGC Genetics Sarcoglycanopathies (NGS panel for 5 genes) that also includes the following genes: SGCA SGCB SGCD SGCE SGCG

More info about this panel

Dystonia (NGS panel for 43 genes) Panel

Portugal.

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 panel

Myoclonus Dystonia Panel

United Kingdom.

By Mersey Regional Genetics Laboratories Liverpool Women's Hospital

This panel specifically test the SGCE gene.

More info about this panel

Dystonia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Dystonia Sequencing Panel with CNV Detection that also includes the following genes: SGCE SLC2A1 SPR TAF1 TH ANO3 TUBB4A THAP1 PRRT2 TOR1A

More info about this panel

Myoclonus-Dystonia Syndrome via SGCE Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the SGCE gene.

More info about this panel

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

SGCE Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the SGCE gene.

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

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 panel

Epileptic Encephalopathy Panel

Germany.

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 panel

Progressive Myoclonic Epilepsy Panel

Germany.

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 panel

Epilepsy and Mitochondrial Encephalopathy Panel

Germany.

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 panel

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

Epilepsy Panel

Germany.

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 panel

Limb Girdle Muscular Dystrophy Autosomal Recessive Panel Panel

United States.

By FirmaLab Limb Girdle Muscular Dystrophy Autosomal Recessive Panel that also includes the following genes: SGCA SGCB SGCE SGCG TCAP TTN CAPN3 TRIM32 FKRP ANO5

More info about this panel

DYT11 - myoclonus-dystonia Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SGCE gene.

More info about this panel

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

Dystonia Plus Syndrome Panel Panel

Germany.

By CeGaT GmbH Dystonia Plus Syndrome Panel that also includes the following genes: SGCE SPR TAF1 TH BCAP31 TUBB4A SLC30A10 COX20 FTL GCH1

More info about this panel

Dystonia All Panel Panel

Germany.

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 panel

Single gene testing SGCE Panel

Germany.

By CeGaT GmbH

This panel specifically test the SGCE gene.

More info about this panel

SGCE - Gene sequencing Panel

Netherlands.

By Clinical Genetics Academic Medical Center

This panel specifically test the SGCE gene.

More info about this panel

Dystonia Panel

Estonia.

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 panel

Myoclonus-dystonia, SGCE sequencing Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the SGCE gene.

More info about this panel

Dystonia 11 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the SGCE gene.

More info about this panel

Dystonia 11 Panel

Slovakia.

By MedGene

This panel specifically test the SGCE gene.

More info about this panel

Invitae Dystonia Comprehensive Panel Panel

United States.

By Invitae Invitae Dystonia Comprehensive Panel that also includes the following genes: SGCE SLC2A1 SLC6A3 SPR TH ANO3 TUBB4A THAP1 PRRT2 TOR1A

More info about this panel

Invitae Epilepsy Panel Panel

United States.

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 panel

Myoclonic dystonia: SGCE gene sequence analysis (exons 1-7, 9) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the SGCE gene.

More info about this panel

Myoclonus dystonia: SGCE gene sequence analysis (remain exons) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the SGCE gene.

More info about this panel

Myoclonic dystonia: SGCE gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the SGCE gene.

More info about this panel

DYSTONIA Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DYSTONIA that also includes the following genes: SGCE SLC2A1 SPR TAF1 TH PANK2 THAP1 TOR1A GCH1 ATP1A3

More info about this panel

Myoclonus-Dystonia: SGCE Full Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the SGCE gene.

More info about this panel

Myoclonus-Dystonia: SGCE Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the SGCE gene.

More info about this panel

Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel that also includes the following genes: RYR1 RYR2 SGCA SGCB SGCD SGCE SGCG TCAP TNNI2 TNNT1

More info about this panel

Expanded Neuromuscular Disorders: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Expanded Neuromuscular Disorders: Sequencing Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP

More info about this panel

Dystonia: Sequencing Panel Panel

United States.

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 panel

Expanded Neuromuscular Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Expanded Neuromuscular Disorders: Deletion/Duplication Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP

More info about this panel

Dystonia Dyskinesia NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Dystonia Dyskinesia NGS Panel that also includes the following genes: SCP2 SGCE SLC6A3 SPR TAF1 THAP1 DRD2 DRD5 PRRT2 TOR1A

More info about this panel

Neuromuscular NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Neuromuscular NGS Panel that also includes the following genes: RYR1 RYR2 SGCA SGCB SGCD SGCE SGCG TCAP TNNI2 TNNT1

More info about this panel

SGCE Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SGCE gene.

More info about this panel

Dystonia Panel Panel

Finland.

By Blueprint Genetics Dystonia Panel that also includes the following genes: SGCE SLC2A1 SPR TH ANO3 KMT2B BCAP31 THAP1 FA2H ADCY5

More info about this panel

Myoclonic dystonia 11 Panel

Spain.

By Bioarray

This panel specifically test the SGCE gene.

More info about this panel

Rapid microarray (CGH and SNP) Panel

United States.

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 panel

High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

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 panel

DYSTONIA, L-DOPA-RESPONSIVE (TYROSINE HYDROXYLASE DEFICIENCY) Panel

Spain.

By Laboratorio de Genetica Clinica SL DYSTONIA, L-DOPA-RESPONSIVE (TYROSINE HYDROXYLASE DEFICIENCY) that also includes the following genes: SGCE TH GCH1

More info about this panel

MYOCLONUS DYSTONIA (DYT11) Panel

Spain.

By Laboratorio de Genetica Clinica SL MYOCLONUS DYSTONIA (DYT11) that also includes the following genes: SGCE TH KCTD17 DRD2 GCH1

More info about this panel

DYSTONIAS (DYT) NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL DYSTONIAS (DYT) NGS PANEL that also includes the following genes: SGCE SLC2A1 SLC6A3 SPR TH ACTB ANO3 PANK2 CIZ1 TUBB4A

More info about this panel

PROGRESSIVE MYOCLONIC EPILEPSY/GEFs+ NGS PANEL Panel

Spain.

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 panel

Dystonia 11 Panel

Canada.

By LifeLabs Genetics

This panel specifically test the SGCE gene.

More info about this panel

Myoclonus Dystonia , Sequencing SGCE Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SGCE gene.

More info about this panel

Myoclonus Dystonia, Sequencing Rest Exons SGCE / DYT11 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SGCE gene.

More info about this panel

Myoclonus Dystonia, Sequencing Exons (1-7, 9) SGCE / DYT11 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SGCE gene.

More info about this panel

Myoclonus Dystonia , Deletions-Duplications (MLPA) SGCE Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SGCE gene.

More info about this panel

Dystonia and Related Disorders , Panel Massive Sequencing (NGS) 13 Genes Panel

Spain.

By Reference Laboratory Genetics Dystonia and Related Disorders , Panel Massive Sequencing (NGS) 13 Genes that also includes the following genes: SGCE SLC2A1 SPR TAF1 TH PANK2 THAP1 TOR1A GCH1 ATP1A3

More info about this panel

Myoclonus Dystonia , Panel Massive Sequencing (NGS) SGCE, TOR1A Genes Panel

Spain.

By Reference Laboratory Genetics Myoclonus Dystonia , Panel Massive Sequencing (NGS) SGCE, TOR1A Genes that also includes the following genes: SGCE TOR1A

More info about this panel

Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Panel

Spain.

By Reference Laboratory Genetics Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP

More info about this panel

Sarcoglycanopathies , Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Sarcoglycanopathies , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: SGCA SGCB SGCD SGCE SGCG

More info about this panel


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