VPS13A gene related symptoms and diseases

All the information presented here about the VPS13A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to VPS13A gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Neuronal loss in central nervous system Very Common - Between 80% and 100% cases
Personality changes Very Common - Between 80% and 100% cases
Self-injurious behavior Very Common - Between 80% and 100% cases
Abnormality of vision Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with VPS13A gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Drooling
  • EMG abnormality
  • Vasculitis
  • Involuntary movements
  • Progressive neurologic deterioration
  • Psychosis
  • Memory impairment
  • Abnormality of the thyroid gland

And 87 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to VPS13A gene

Here you will find a list of rare diseases related to the VPS13A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CHOREOACANTHOCYTOSIS

Alternate names

CHOREOACANTHOCYTOSIS Is also known as neuroacanthocytosis, chorea-acanthocytosis, chac, levine-critchley syndrome, acanthocytosis with neurologic disorder

Description

Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.

Most common symptoms of CHOREOACANTHOCYTOSIS

  • Seizures
  • Short stature
  • Ataxia
  • Nystagmus
  • Muscle weakness


More info about CHOREOACANTHOCYTOSIS

SOURCES: ORPHANET OMIM


Potential gene panels for VPS13A gene

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 - Syndromic Disorders Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders that also includes the following genes: SYNGAP1 TBX1 TSC1 TSC2 SETBP1 PANK2 ADGRV1 ATP6V0A2 MAGI2 VPS13A

More info about this panel
United States.

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
United States.

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
United States.

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
United States.

VPS13A. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the VPS13A gene.

More info about this panel
Spain.

VPS13A. NextGeneDx.Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the VPS13A gene.

More info about this panel
Spain.

Neuroacanthocytosis (sequence analysis of VPS13A gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the VPS13A gene.

More info about this panel
Portugal.

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
Portugal.

Chorea-acanthocytosis Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the VPS13A gene.

More info about this panel
Germany.

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
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.

Choreoacanthocytosis Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the VPS13A gene.

More info about this panel
Germany.

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.

Selected Genetic Syndromes with Seizures Panel Panel

Germany.

By CeGaT GmbH Selected Genetic Syndromes with Seizures Panel that also includes the following genes: SMARCA2 MED12 TSC1 TSC2 KDM6A NSD1 ZEB2 VPS13A PIGO GNE

More info about this panel
Germany.

Hereditary Degenerative Syndromes Panel Panel

Germany.

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 panel
Germany.

Neuroacanthocytosis Panel Panel

Germany.

By CeGaT GmbH Neuroacanthocytosis Panel that also includes the following genes: XK JPH3 PANK2 VPS13A

More info about this panel
Germany.

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
Germany.

Single gene testing VPS13A Panel

Germany.

By CeGaT GmbH

This panel specifically test the VPS13A gene.

More info about this panel
Germany.

Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing Panel

United States.

By NBIA Testing Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing that also includes the following genes: SCP2 SQSTM1 KMT2B PANK2 TRIM32 VPS13A MECR SLC39A14 FA2H CP

More info about this panel
United States.

Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication Panel

United States.

By NBIA Testing Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication that also includes the following genes: SCP2 SQSTM1 KMT2B PANK2 TRIM32 VPS13A MECR SLC39A14 FA2H CP

More info about this panel
United States.

Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication Panel

United States.

By NBIA Testing Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication that also includes the following genes: SQSTM1 PANK2 TRIM32 VPS13A SLC39A14 FA2H CP C19orf12 DCAF17 WDR45

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.

VPS13A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the VPS13A gene.

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.

Cardiomyopathy Panel Panel

Finland.

By Blueprint Genetics Cardiomyopathy Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SCNN1B SCNN1G SCO2 SDHA SGCA SGCB

More info about this panel
Finland.

Comprehensive Muscular Dystrophy / Myopathy Panel Panel

Finland.

By Blueprint Genetics Comprehensive Muscular Dystrophy / Myopathy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP TNNT1 TPM2 TPM3 MYOT TTN

More info about this panel
Finland.

Comprehensive Cardiology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA

More info about this panel
Finland.

Parkinson Disease Panel Panel

Finland.

By Blueprint Genetics Parkinson Disease Panel that also includes the following genes: SLC20A2 SLC6A3 SNCA SPR SYNJ1 TH VPS35 FBXO7 PINK1 DNAJC6

More info about this panel
Finland.

Comprehensive Epilepsy Panel Panel

Finland.

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 panel
Finland.

Dilated Cardiomyopathy (DCM) Panel Panel

Finland.

By Blueprint Genetics Dilated Cardiomyopathy (DCM) Panel that also includes the following genes: SCN5A TAZ TBX20 TBX5 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN

More info about this panel
Finland.

Choreoacanthocytosis Panel

Spain.

By Bioarray

This panel specifically test the VPS13A gene.

More info about this panel
Spain.

CHOREO-ACANTHOCYTOSIS Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the VPS13A gene.

More info about this panel
Spain.

Chorea-acanthocytosis, Sequencing VPS13A Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the VPS13A gene.

More info about this panel
Spain.

Neuroacanthocytosis, Panel Massive Sequencing (NGS) VPS13A, XK Genes Panel

Spain.

By Reference Laboratory Genetics Neuroacanthocytosis, Panel Massive Sequencing (NGS) VPS13A, XK Genes that also includes the following genes: XK VPS13A

More info about this panel
Spain.

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