Parkinson Disease 15, Autosomal Recessive Early-onset; Park15

Clinical Features

Top most frequent phenotypes and symptoms related to Parkinson Disease 15, Autosomal Recessive Early-onset; Park15

  • Milia
  • Cognitive impairment
  • Spasticity
  • Hyperreflexia
  • Dysarthria
  • Gait disturbance
  • Tremor
  • Talipes equinovarus
  • Dysphagia
  • Dystonia
And another 38 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Parkinson Disease 15, Autosomal Recessive Early-onset; Park15 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Dystonia.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

PTEN, ATP7B, AUH, PSEN1, HPRT1, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PINK1, TIMM8A, MMADHC, SUOX, PTS, QDPR, MPV17, SDHAF1 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
50 %
Movement Disorders Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

PTEN, ATP7B, AUH, PSEN1, HPRT1, TRIM32, POLG, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PARK7, PINK1, SQSTM1, TIMM8A, MMADHC, SUOX , (...)

View the complete list with 72 more genes
Specificity
3 %
Genes
100 %
Parkinson's Disease.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

POLG, PARK7, PINK1, PRKN, GBA, TH, PLA2G6, MAPT, GCH1, LRRK2, SNCA, DCTN1, ATP1A3, ATP13A2, TAF1, CSF1R, FBXO7, SLC6A3, VPS35
Specificity
11 %
Genes
100 %
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

AARS2, UQCRQ, ATP7B, AUH, BCS1L, PSEN1, GLB1, HPRT1, POLG, NDUFS4, AFG3L2, FOXRED1, NDUFAF2, PANK2, MECP2, NDUFA12, NDUFA9, TTC19, NDUFA10, SCP2 , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
50 %
Parkinson disease 15 (PARK15, sequence analysis of FBXO7 gene).

By CGC Genetics in Portugal.

FBXO7
Specificity
100 %
Genes
50 %
Parkinson disease (NGS panel for 10 genes).

By CGC Genetics in Portugal.

PARK7, PINK1, PRKN, PLA2G6, LRRK2, SNCA, ATP13A2, FBXO7, VPS35, DNAJC6
Specificity
20 %
Genes
100 %
Parkinson disease (NGS panel for 33 genes).

By CGC Genetics in Portugal.

POLG, HTRA2, PARK7, PINK1, PRKN, SNCB, GBA, TH, PLA2G6, MAPT, GCH1, LRRK2, SNCA, DCTN1, ATP1A3, SYNJ1, ATP13A2, ATP6AP2, TAF1, UCHL1 , (...)

View the complete list with 12 more genes
Specificity
7 %
Genes
100 %
Parkinson Disease via the FBXO7 Gene.

By PreventionGenetics PreventionGenetics in United States.

FBXO7
Specificity
100 %
Genes
50 %
Parkinson Disease Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PARK7, PINK1, PRKN, GBA, PLA2G6, MAPT, GCH1, LRRK2, SNCA, SYNJ1, ATP13A2, RAB39B, TAF1, FBXO7, SLC6A3, VPS35, DNAJC6
Specificity
12 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
PARK15 Parkinsonism.

By Centogene AG - the Rare Disease Company in Germany.

FBXO7
Specificity
100 %
Genes
50 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Parkinsons disease panel.

By Centogene AG - the Rare Disease Company in Germany.

SPR, HTRA2, PARK7, PINK1, PRKN, SNCB, GBA, TH, PLA2G6, MAPT, GCH1, LRRK2, SNCA, FUS, DCTN1, ATP1A3, SYNJ1, ATP13A2, ATP6AP2, TAF1 , (...)

View the complete list with 10 more genes
Specificity
7 %
Genes
100 %
Hereditary Degenerative Syndromes Panel.

By CeGaT GmbH in Germany.

HTT, ATP7A, ATP7B, AUH, HPRT1, NDUFS4, PANK2, SMPD1, MECP2, SUCLA2, TIMM8A, HEXA, SLC25A15, GCDH, CYP27A1, PRKN, CLN3, ARSA, ARX, FOXG1 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
50 %
Parkinson all Panel.

By CeGaT GmbH in Germany.

FMR1, PTEN, COMT, POLG, PANK2, SPR, HTRA2, GRN, PARK7, PINK1, PRKN, GBA, TH, PLA2G6, ZFYVE26, SPG11, MAPT, ATXN2, ATXN3, GCH1 , (...)

View the complete list with 28 more genes
Specificity
5 %
Genes
100 %
Atypical Parkinson syndrome Panel.

By CeGaT GmbH in Germany.

FMR1, COMT, POLG, GRN, TH, PLA2G6, ZFYVE26, SPG11, MAPT, C9orf72, ATXN2, ATXN3, GCH1, DCTN1, ATP1A3, SYNJ1, ATP13A2, ATP6AP2, RAB39B, FTL , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
50 %
Parkinson Syndrome, autosomal recessive Panel.

By CeGaT GmbH in Germany.

PARK7, PINK1, PRKN, PLA2G6, SYNJ1, ATP13A2, FBXO7, DNAJC6, SLC30A10, PODXL, VPS13C
Specificity
10 %
Genes
50 %
Parkinson Disease.

By Asper Biogene Asper Biogene LLC in Estonia.

HTRA2, PARK7, PINK1, PRKN, PLA2G6, MAPT, LRRK2, SNCA, ATP13A2, UCHL1, FBXO7, SLC6A3, VPS35, DNAJC6, EIF4G1, GIGYF2
Specificity
13 %
Genes
100 %
Invitae Hereditary Parkinson's Disease and Parkinsonism Panel.

By Invitae in United States.

SPR, PARK7, PINK1, PRKN, TH, GCH1, LRRK2, SNCA, DCTN1, ATP13A2, FBXO7, SLC6A3, VPS35, PRKRA, DNAJC6
Specificity
14 %
Genes
100 %
PARKINSON DISEASE.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PARK7, PINK1, PRKN, PLA2G6, LRRK2, SNCA, ATP13A2, TAF1, FBXO7, VPS35
Specificity
20 %
Genes
100 %
NGS panel - Parkinson.

By Genome Diagnostics VU University Medical Center in Netherlands.

COMT, POLG, SPR, HTRA2, PARK7, PINK1, PRKN, GBA, TH, PLA2G6, MAPT, ATXN2, ATXN3, GCH1, LRRK2, SNCA, DCTN1, ATP1A3, SYNJ1, ATP13A2 , (...)

View the complete list with 16 more genes
Specificity
6 %
Genes
100 %
Dystonia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTEN, ATP7B, AUH, PSEN1, HPRT1, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PINK1, TIMM8A, MMADHC, SUOX, PTS, QDPR, MPV17, SDHAF1 , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
50 %
Parkinson-Alzheimer-Dementia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TYROBP, APP, PSEN1, POLG, HTRA2, GRN, PARK7, PINK1, PRKN, SNCB, GBA, TH, PLA2G6, PSEN2, MAPT, APOE, GCH1, LRRK2, SNCA, DCTN1 , (...)

View the complete list with 17 more genes
Specificity
6 %
Genes
100 %
FBXO7.

By Fulgent Genetics Fulgent Genetics in United States.

FBXO7
Specificity
100 %
Genes
50 %
Parkinson Disease Panel.

By Blueprint Genetics in Finland.

SPR, PARK7, PINK1, PRKN, TH, PLA2G6, MAPT, GCH1, LRRK2, SNCA, ATP1A3, SYNJ1, ATP13A2, VPS13A, SLC20A2, FBXO7, SLC6A3, VPS35, PRKRA, PDGFRB , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
100 %
Parkinson Disease, Early Onset NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

PARK7, PINK1, PRKN, PLA2G6, GCH1, SNCA, ATP13A2, FBXO7, DNAJC6
Specificity
23 %
Genes
100 %
FBXO7 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

FBXO7
Specificity
100 %
Genes
50 %
PARKINSON TYPE 15 (PARK15).

By Laboratorio de Genetica Clinica SL in Spain.

FBXO7
Specificity
100 %
Genes
50 %
PARKINSON NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

HTRA2, COQ2, PARK7, PINK1, PRKN, GBA, PLA2G6, GCH1, LRRK2, SNCA, SYNJ1, ATP13A2, ATP6AP2, UCHL1, FBXO7, SLC6A3, VPS35, DNAJC6, EIF4G1
Specificity
11 %
Genes
100 %
Parkinson Disease , Panel Massive Sequencing (NGS) 11 Genes.

By Reference Laboratory Genetics in Spain.

PARK7, PINK1, PRKN, PLA2G6, LRRK2, SNCA, ATP13A2, TAF1, FBXO7, SLC6A3, VPS35
Specificity
19 %
Genes
100 %
Parkinson Disease: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

PARK7, PINK1, PRKN, LRRK2, SNCA, ATP13A2, TAF1, FBXO7, SLC6A3, VPS35
Specificity
20 %
Genes
100 %
Alpha Synuclein (SNCA) Duplication/Deletion Test.

By Athena Diagnostics Inc in United States.

SNCA
Specificity
100 %
Genes
50 %
Alpha Synuclein (SNCA) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

SNCA
Specificity
100 %
Genes
50 %
Complete Parkinsonism Evaluation.

By Athena Diagnostics Inc in United States.

PARK7, PINK1, PRKN, LRRK2, SNCA
Specificity
20 %
Genes
50 %
SNCA.

By Institute for Human Genetics University Clinic Freiburg in Germany.

SNCA
Specificity
100 %
Genes
50 %
SNCA. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SNCA
Specificity
100 %
Genes
50 %
SNCA. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SNCA
Specificity
100 %
Genes
50 %
SNCA. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SNCA
Specificity
100 %
Genes
50 %
SNCA. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SNCA
Specificity
100 %
Genes
50 %
Parkinson disease 1/4 (PARK1/4, deletion/duplication analysis on SNCA gene).

By CGC Genetics in Portugal.

SNCA
Specificity
100 %
Genes
50 %
Dementia with Lewy bodies (sequence analysis of SNCA gene).

By CGC Genetics in Portugal.

SNCA
Specificity
100 %
Genes
50 %
Dementia with Lewy bodies (deletion/duplication analisis on SNCA gene).

By CGC Genetics in Portugal.

SNCA
Specificity
100 %
Genes
50 %
Parkinson disease 1/4 (PARK1/4, sequence analysis of SNCA gene).

By CGC Genetics in Portugal.

SNCA
Specificity
100 %
Genes
50 %
Alzheimer disease (NGS panel for 8 genes).

By CGC Genetics in Portugal.

APP, PSEN1, SNCB, PSEN2, APOE, SNCA, PRNP, SORL1
Specificity
13 %
Genes
50 %
Hereditary dementias (NGS panel for 28 genes).

By CGC Genetics in Portugal.

TYROBP, APP, PSEN1, VCP, GRN, TIMM8A, SNCB, PSEN2, MAPT, APOE, NOTCH3, SNCA, FUS, CHMP2B, TARDBP, UBQLN2, ATP13A2, DNMT1, CSF1R, TREM2 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
50 %
Parkinson’s Disease via the SNCA Gene.

By PreventionGenetics PreventionGenetics in United States.

SNCA
Specificity
100 %
Genes
50 %
PARK1 Parkinsonism.

By Centogene AG - the Rare Disease Company in Germany.

SNCA
Specificity
100 %
Genes
50 %
Parkinson Syndrome, autosomal dominant Panel.

By CeGaT GmbH in Germany.

HTRA2, GBA, LRRK2, SNCA, VPS35, EIF4G1, DNAJC13, CHCHD2, PRKAR1B, RAB29
Specificity
10 %
Genes
50 %
Single gene testing SNCA.

By CeGaT GmbH in Germany.

SNCA
Specificity
100 %
Genes
50 %
SNCA.

By Innovagenomics Innovagenomics S.L in Spain.

SNCA
Specificity
100 %
Genes
50 %
Invitae Combined Hereditary Dementia and Amyotrophic Lateral Sclerosis Panel.

By Invitae in United States.

APP, PSEN1, OPTN, VCP, GRN, SOD1, SPG11, PSEN2, MAPT, SNCA, ALS2, FUS, DCTN1, TARDBP, VAPB, PFN1, UBQLN2, TFG, TBK1, PRNP , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Parkinson disease 1: SNCA (PARK1) gene (exons 3-4) screening.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SNCA
Specificity
100 %
Genes
50 %
Parkinson disease 1: SNCA (PARK1) gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SNCA
Specificity
100 %
Genes
50 %
Parkinson disease 1: SNCA (PARK1) gene deletions-duplications analysis (MLPA).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SNCA
Specificity
100 %
Genes
50 %
NGS panel - dementia.

By Genome Diagnostics VU University Medical Center in Netherlands.

TYROBP, APP, PSEN1, OPTN, VCP, GRN, SQSTM1, SNCB, SOD1, NEFH, FIG4, PSEN2, MAPT, NOTCH3, SNCA, ALS2, SIGMAR1, FUS, SETX, CHMP2B , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
50 %
SNCA(PARK1) - Gene Sequencing & Del/Dup analysis.

By Genome Diagnostics VU University Medical Center in Netherlands.

SNCA
Specificity
100 %
Genes
50 %
SNCA.

By Fulgent Genetics Fulgent Genetics in United States.

SNCA
Specificity
100 %
Genes
50 %
Dementia Panel.

By Blueprint Genetics in Finland.

UBE3A, APP, PSEN1, VCP, GRN, PSEN2, MAPT, APOE, SNCA, SIGMAR1, FUS, CHMP2B, TARDBP, UBQLN2, CSF1R, TREM2, PRNP, SORL1, RNF216, TUBA4A , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Parkinson disease 4.

By Bioarray in Spain.

SNCA
Specificity
100 %
Genes
50 %
Parkinson disease type 1.

By Bioarray in Spain.

SNCA
Specificity
100 %
Genes
50 %
SNCA Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

SNCA
Specificity
100 %
Genes
50 %
Parkinson Disease (SNCA gene).

By Diagnostic Service Facility University of Antwerp in Belgium.

SNCA
Specificity
100 %
Genes
50 %
PARKINSONISM, LEWY BODY (PARK1/ PARK4).

By Laboratorio de Genetica Clinica SL in Spain.

SNCA
Specificity
100 %
Genes
50 %
Parkinson Disease Type 4, Sequencing SNCA Gene.

By Reference Laboratory Genetics in Spain.

SNCA
Specificity
100 %
Genes
50 %
Parkinson Disease Type 1, Sequencing Exons (3-4) SNCA (PARK1) Gene.

By Reference Laboratory Genetics in Spain.

SNCA
Specificity
100 %
Genes
50 %
Parkinson Disease Type 4, Deletions-Duplications (MLPA) SNCA Gene.

By Reference Laboratory Genetics in Spain.

SNCA
Specificity
100 %
Genes
50 %
Parkinson Disease , Deletions-Duplications (MLPA) SNCA, PARK2, PINK1, PARK7, LRRK2, UCHL1 Genes.

By Reference Laboratory Genetics in Spain.

PARK7, PINK1, PRKN, LRRK2, SNCA, UCHL1
Specificity
17 %
Genes
50 %

Alternate names

Parkinson Disease 15, Autosomal Recessive Early-onset; Park15 Is also known as parkinsonian-pyramidal syndrome;pkps, pallidopyramidal syndrome, pallido-pyramidal syndrome;pallidopyramidal syndrome.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like POLYCYSTIC KIDNEY DISEASE 5; PKD5 MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more