ATP6AP2 gene related symptoms and diseases

All the information presented here about the ATP6AP2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ATP6AP2 gene

Symptoms // Phenotype % Cases
Babinski sign Very Common - Between 80% and 100% cases
Rigidity Very Common - Between 80% and 100% cases
Resting tremor Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Bradykinesia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ATP6AP2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Tremor
  • Parkinsonism
  • Not very common - Between 30% and 50% cases

  • Agraphesthesia
  • Astereognosia
  • Spasticity
  • Hyperreflexia
  • Dyskinesia
  • Neuronal loss in central nervous system

And 34 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ATP6AP2 gene

Here you will find a list of rare diseases related to the ATP6AP2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


X-LINKED INTELLECTUAL DISABILITY, HEDERA TYPE


Alternate names

X-LINKED INTELLECTUAL DISABILITY, HEDERA TYPE Is also known as mental retardation, x-linked, with epilepsy, mrxsh, mrxe

Description

X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.

Most common symptoms of X-LINKED INTELLECTUAL DISABILITY, HEDERA TYPE

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Cognitive impairment


More info about X-LINKED INTELLECTUAL DISABILITY, HEDERA TYPE

SOURCES: OMIM ORPHANET MESH

X-LINKED PARKINSONISM-SPASTICITY SYNDROME


Alternate names

X-LINKED PARKINSONISM-SPASTICITY SYNDROME Is also known as xpds

Description

X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign.

Most common symptoms of X-LINKED PARKINSONISM-SPASTICITY SYNDROME

  • Seizures
  • Spasticity
  • Hyperreflexia
  • Tremor
  • Babinski sign


More info about X-LINKED PARKINSONISM-SPASTICITY SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for ATP6AP2 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

Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability that also includes the following genes: SLC35A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SNAP25 CDKL5 SYN1 SYP

More info about this panel

NGS XLID Panel Panel

United States.

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 panel

NGS Epilepsy/Seizure Panel Panel

United States.

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 panel

Mental Retardation, X-linked, Syndromic, Hedera type, ATP6AP2 Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the ATP6AP2 gene.

More info about this panel

X-Linked Intellectual Disabilities Deletion/Duplication Panel

United States.

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 panel

X-linked Intellectual Disabilities Sequencing Panel

United States.

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 panel

X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel

United States.

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 panel

Non-Specific Intellectual Disability Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Non-Specific Intellectual Disability Panel that also includes the following genes: RPS6KA3 CLIP1 SCN2A ST3GAL3 SLC16A2 SLC25A1 SLC6A8 SLC9A6 SMARCA4 SMARCB1

More info about this panel

X-linked Non-Specific Intellectual Disability Panel Panel

United States.

By Genetic Services Laboratory University of Chicago X-linked Non-Specific Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS CDKL5 SYN1

More info about this panel

Comprehensive Epilepsy Panel Panel

United States.

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 panel

Infantile Epilepsy Panel Panel

United States.

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 panel

ATP6AP2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ATP6AP2 gene.

More info about this panel

Mental retardation, X-linked, syndromic, Hedera type (sequence analysis of ATP6AP2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ATP6AP2 gene.

More info about this panel

Parkinson disease (NGS panel for 33 genes) Panel

Portugal.

By CGC Genetics Parkinson disease (NGS panel for 33 genes) that also includes the following genes: SLC6A3 SNCA SNCAIP SNCB SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35

More info about this panel

Mental retardation, X-linked (NGS panel for 89 genes) Panel

Portugal.

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 panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Portugal.

By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1

More info about this panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Portugal.

By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1

More info about this panel

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

United States.

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 panel

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics X-Linked Intellectual Disability Sequencing Panel with CNV Detection that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC35A2 SLC6A8 SLC7A3 SLC9A6 SMC1A KDM5C SMS

More info about this panel

Parkinsonism with Spasticity and Mental Retardation with Epilepsy, Hedera Type via ATP6AP2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ATP6AP2 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

Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection that also includes the following genes: SLC20A2 SLC6A3 SNCA SNCB SPG11 SPR SYNJ1 TAF1 TARDBP TWNK

More info about this panel

Mental retardation - different panels Panel

Germany.

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 panel

Mental Retardation and Dysmorphology - panels Panel

Germany.

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 panel

Syndromal Diseases - panels Panel

Germany.

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 panel

X-Linked Mental Retardation Panel

Germany.

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 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

Epileptic syndromes with epilepsy and intellectual disability panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Epileptic syndromes with epilepsy and intellectual disability panel that also includes the following genes: SLC6A8 SLC9A6 SMC1A KDM5C SMS CDKL5 STXBP1 SYNGAP1 SYP TCF4

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

Mental retardation, X-linked with epilepsy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ATP6AP2 gene.

More info about this panel

Parkinsons disease panel Panel

Germany.

By Centogene AG - the Rare Disease Company Parkinsons disease panel that also includes the following genes: SLC6A3 SNCA SNCB SPR SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35

More info about this panel

Epilepsy and X-linked Mental Retardation with Seizures Panel Panel

Germany.

By CeGaT GmbH Epilepsy and X-linked Mental Retardation with Seizures Panel that also includes the following genes: SLC9A6 KDM5C SMS CDKL5 SYN1 SYP MED12 UBE2A PCDH19 ARHGEF9

More info about this panel

Parkinson all Panel Panel

Germany.

By CeGaT GmbH Parkinson all Panel that also includes the following genes: ATXN2 SLC6A3 SNCA SPG11 SPR SYNJ1 TAF1 TH VPS35 FBXO7

More info about this panel

Atypical Parkinson syndrome Panel Panel

Germany.

By CeGaT GmbH Atypical Parkinson syndrome Panel that also includes the following genes: ATXN2 SPG11 SYNJ1 TH FBXO7 DNAJC6 RAB39B ATP6AP2 ZFYVE26 SLC30A10

More info about this panel

Single gene testing ATP6AP2 Panel

Germany.

By CeGaT GmbH

This panel specifically test the ATP6AP2 gene.

More info about this panel

Epilepsy Panel

Estonia.

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 panel

NGS panel - Parkinson Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel - Parkinson that also includes the following genes: ATXN2 SLC18A2 SLC6A3 SNCA SPR SYNJ1 TAF1 TH GIGYF2 UCHL1

More info about this panel

XLMR with Epilepsy: ATP6AP2 Full Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the ATP6AP2 gene.

More info about this panel

XLMR with Epilepsy: ATP6AP2 Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the ATP6AP2 gene.

More info about this panel

Epilepsy and Seizure Disorders: Sequencing Panel Panel

United States.

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 panel

X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel Panel

United States.

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 panel

Neurology: Sequencing Panel Panel

United States.

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 panel

Epilepsy and Seizure Disorders: Deletion/Duplication Panel Panel

United States.

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 panel

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

Intellectual Disability NGS Panel Panel

United States.

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 panel

XLID NGS Panel Panel

United States.

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 panel

ATP6AP2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ATP6AP2 gene.

More info about this panel

Idiopathic Generalized Epilepsy NGS Panel Panel

United States.

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 panel

Early-Onset Epileptic Encephalopathy NGS Panel Panel

United States.

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 panel

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

X-chromosome High Resolution microarray analysis Panel

United States.

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 panel

X-linked Intellectual Disability Panel Panel

Finland.

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 panel

Mental retardation, X-linked, syndromic, Hedera type Panel

Spain.

By Bioarray

This panel specifically test the ATP6AP2 gene.

More info about this panel

INTELLECTUAL DEFICIT AND EPILEPSY (X-LINKED) Panel

Spain.

By Laboratorio de Genetica Clinica SL INTELLECTUAL DEFICIT AND EPILEPSY (X-LINKED) that also includes the following genes: CDKL5 ARX ATP6AP2 OPHN1

More info about this panel

PARKINSON NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL PARKINSON NGS PANEL that also includes the following genes: SLC6A3 SMPD1 SNCA SYNJ1 UCHL1 VPS35 FBXO7 HTRA2 PINK1 DNAJC6

More info about this panel

X-Linked Mental Retardation with Epilepsy Type Hedera , Sequencing ATP6AP2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ATP6AP2 gene.

More info about this panel


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