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.
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
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
Search interest in ATP6AP2
Potential gene panels for ATP6AP2 gene
Epilepsy 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 panelEpilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability Panel
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 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 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 panelMental Retardation, X-linked, Syndromic, Hedera type, ATP6AP2 Panel
By Center for Human Genetics, Inc
This panel specifically test the ATP6AP2 gene.
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 panelNon-Specific Intellectual Disability Panel Panel
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 panelX-linked Non-Specific Intellectual Disability Panel Panel
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 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 panelATP6AP2. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ATP6AP2 gene.
More info about this panelMental retardation, X-linked, syndromic, Hedera type (sequence analysis of ATP6AP2 gene) Panel
By CGC Genetics
This panel specifically test the ATP6AP2 gene.
More info about this panelParkinson disease (NGS panel for 33 genes) Panel
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 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 panelLysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
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 panelLysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
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 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 panelX-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel
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 panelParkinsonism with Spasticity and Mental Retardation with Epilepsy, Hedera Type via ATP6AP2 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the ATP6AP2 gene.
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 panelParkinson Disease and Parkinsonism Sequencing Panel with CNV Detection Panel
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 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 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 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 panelEpileptic syndromes with epilepsy and intellectual disability panel Panel
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 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 panelMental retardation, X-linked with epilepsy Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ATP6AP2 gene.
More info about this panelParkinsons disease panel Panel
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 panelEpilepsy and X-linked Mental Retardation with Seizures Panel Panel
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 panelParkinson all Panel Panel
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 panelAtypical Parkinson syndrome Panel Panel
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 panelSingle gene testing ATP6AP2 Panel
By CeGaT GmbH
This panel specifically test the ATP6AP2 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 panelNGS panel - Parkinson Panel
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 panelXLMR with Epilepsy: ATP6AP2 Full Gene Sequencing Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the ATP6AP2 gene.
More info about this panelXLMR with Epilepsy: ATP6AP2 Gene Deletion/Duplication Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the ATP6AP2 gene.
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 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 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 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 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 panelATP6AP2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ATP6AP2 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 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 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 panelMental retardation, X-linked, syndromic, Hedera type Panel
By Bioarray
This panel specifically test the ATP6AP2 gene.
More info about this panelINTELLECTUAL DEFICIT AND EPILEPSY (X-LINKED) Panel
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 panelPARKINSON NGS PANEL Panel
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 panelX-Linked Mental Retardation with Epilepsy Type Hedera , Sequencing ATP6AP2 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the ATP6AP2 gene.
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