Neurodegeneration With Brain Iron Accumulation 2b; Nbia2b

Clinical Features

Top most frequent phenotypes and symptoms related to Neurodegeneration With Brain Iron Accumulation 2b; Nbia2b

  • Seizures
  • Generalized hypotonia
  • Pica
  • Ataxia
  • Nystagmus
  • Strabismus
  • Spasticity
  • Feeding difficulties
  • Delayed speech and language development
  • Dysarthria
And another 36 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Neurodegeneration With Brain Iron Accumulation 2b; Nbia2b Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

UBE3A, ALPL, ADSL, PAX6, CPT2, ATP6V0A2, HSD17B10, HPRT1, ADGRV1, SHH, POLG, SLC25A19, PANK2, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, SUCLA2 , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders.

By Athena Diagnostics Inc in United States.

ATP6V0A2, HPRT1, ADGRV1, PANK2, RAI1, TSC2, SYNGAP1, SMC3, TSC1, NIPBL, PLA2G6, KCNA1, LGI1, KMT2D, MAGI2, KANSL1, ROGDI, PIGA, PIGN, PIGV , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Hereditary Spastic Paraplegia Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

C12orf65, TUBB3, HSPD1, OPA3, MECP2, ALDH18A1, REEP1, SPG7, ABCD1, ACOX1, FARS2, GJC2, PLP1, SLC2A1, SACS, PLA2G6, ATL1, ZFYVE26, SPG11, SPAST , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Infantile Neuroaxonal Dystrophy (INAD), PLA2G6, Sequencing and Deletion/Duplication.

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

PLA2G6
Specificity
100 %
Genes
100 %
Infantile Neuroaxonal Dystrophy (INAD), PLA2G6, Deletion/Duplication.

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

PLA2G6
Specificity
100 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing.

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

TRIM32, PANK2, SQSTM1, PLA2G6, KIF1A, FA2H, ATP13A2, WDR45, FUCA1, C19orf12, FTL, CP, COASY, DCAF17
Specificity
8 %
Genes
100 %
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
2 %
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
6 %
Genes
100 %
Infantile Neuroaxonal Dystrophy, PLA2G6, Sequencing.

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

PLA2G6
Specificity
100 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication.

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

TRIM32, PANK2, SQSTM1, PLA2G6, KIF1A, FA2H, ATP13A2, WDR45, FUCA1, C19orf12, FTL, CP, COASY, DCAF17
Specificity
8 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication.

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

TRIM32, PANK2, SQSTM1, PLA2G6, KIF1A, FA2H, ATP13A2, WDR45, FUCA1, C19orf12, FTL, CP, COASY, DCAF17
Specificity
8 %
Genes
100 %
PLA2G6 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

PLA2G6
Specificity
100 %
Genes
100 %
PLA2G6 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

PLA2G6
Specificity
100 %
Genes
100 %
NBIA Deletion/Duplication Analysis.

By Genetic Services Laboratory University of Chicago in United States.

PANK2, PLA2G6, FA2H, ATP13A2, WDR45, C19orf12, FTL, CP, COASY, DCAF17
Specificity
10 %
Genes
100 %
NBIA Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

PANK2, PLA2G6, FA2H, ATP13A2, WDR45, C19orf12, FTL, CP, COASY, DCAF17
Specificity
10 %
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
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
Neurodegeneration with brain iron accumulation type 2.

By Human Genetics Ruhr University in Germany.

PLA2G6
Specificity
100 %
Genes
100 %
PLA2G6. MLPA testing.

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

PLA2G6
Specificity
100 %
Genes
100 %
PLA2G6. Complete sequencing.

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

PLA2G6
Specificity
100 %
Genes
100 %
PLA2G6. Complete sequencing.

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

PLA2G6
Specificity
100 %
Genes
100 %
Infantile neuroaxonal dystrophy 1 (sequence analysis of PLA2G6 gene).

By CGC Genetics in Portugal.

PLA2G6
Specificity
100 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (sequence analysis of PLA2G6 gene).

By CGC Genetics in Portugal.

PLA2G6
Specificity
100 %
Genes
100 %
Parkinson disease 14 (sequence analysis of PLA2G6 gene).

By CGC Genetics in Portugal.

PLA2G6
Specificity
100 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation 2A/2B (NBIA2A/2B, deletion/duplication analysis of PLA2G6 gene).

By CGC Genetics in Portugal.

PLA2G6
Specificity
100 %
Genes
100 %
Parkinson disease (NGS panel for 10 genes).

By CGC Genetics in Portugal.

PARK7, PINK1, PRKN, PLA2G6, LRRK2, SNCA, ATP13A2, FBXO7, VPS35, DNAJC6
Specificity
10 %
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
4 %
Genes
100 %
Dystonia (NGS panel for 43 genes).

By CGC Genetics in Portugal.

ATP7B, AUH, PANK2, SMPD1, MECP2, SPR, TIMM8A, HEXA, GCDH, PRKN, PNKD, ARSA, NPC1, NPC2, SLC2A1, ATM, TH, PLA2G6, TOR1A, THAP1 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Neurodegeneration with brain iron accumulation (NGS panel of 8 genes).

By CGC Genetics in Portugal.

PANK2, PLA2G6, FA2H, ATP13A2, WDR45, C19orf12, FTL, COASY
Specificity
13 %
Genes
100 %
Neurodegeneration with brain iron accumulation (NGS panel of 8 genes).

By CGC Genetics in Portugal.

PANK2, PLA2G6, FA2H, ATP13A2, WDR45, C19orf12, FTL, COASY
Specificity
13 %
Genes
100 %
Infantile Neuroaxonal Dystrophy.

By Mersey Regional Genetics Laboratories Liverpool Women's Hospital in United Kingdom.

PLA2G6
Specificity
100 %
Genes
100 %
PLA2G6-Associated Neuroderation, Infantile Neuroaxonal Dystrophy and Parkinson Disease via PLA2G6 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PLA2G6
Specificity
100 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PANK2, PLA2G6, FA2H, ATP13A2, WDR45, NALCN, C19orf12, FTL, CP, COASY, DCAF17
Specificity
10 %
Genes
100 %
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
6 %
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 %
Epileptic Encephalopathy.

By MGZ Medical Genetics Center in Germany.

UBE3A, AMACR, POLG, PANK2, MECP2, GAMT, STXBP1, SLC25A22, GLDC, HEXA, HEXB, ALDH7A1, TPP1, CLN3, ARX, CDKL5, FOXG1, MEF2C, NPC1, NPC2 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, APP, TUBB3, HSD17B10, HPRT1, PANK2, FH, MECP2, GAMT, STXBP1, TUBA1A, SLC25A22, GLDC, GK, MAOA, ACSL4, SLC9A6, ALDH7A1 , (...)

View the complete list with 246 more genes
Specificity
1 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA).

By MGZ Medical Genetics Center in Germany.

PANK2, PLA2G6, ATL1, SPAST, FA2H, ATP13A2, WDR45, C19orf12, FTL, CP, DCAF17, IBA57
Specificity
9 %
Genes
100 %
Epilepsy.

By MGZ Medical Genetics Center in Germany.

UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, AMACR, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2 , (...)

View the complete list with 192 more genes
Specificity
1 %
Genes
100 %
PARK14 Parkinsonism.

By Centogene AG - the Rare Disease Company in Germany.

PLA2G6
Specificity
100 %
Genes
100 %
Infantile neuroaxonal dystrophy type I.

By Centogene AG - the Rare Disease Company in Germany.

PLA2G6
Specificity
100 %
Genes
100 %
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
4 %
Genes
100 %
Selected Genetic Syndromes with Seizures Panel.

By CeGaT GmbH in Germany.

GNE, ATIC, DHCR7, RAI1, TSC2, TSC1, NSD1, PLA2G6, LAMA2, PIGO, KMT2D, ROGDI, PIGV, KCNJ10, ZEB2, VPS13A, MED12, KDM6A, SMARCA2, C12orf57
Specificity
5 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel.

By CeGaT GmbH in Germany.

PANK2, SCP2, PLA2G6, FA2H, ATP13A2, WDR45, C19orf12, FTL, CP, COASY, DCAF17, SLC25A42, REPS1
Specificity
8 %
Genes
100 %
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel.

By CeGaT GmbH in Germany.

MTHFR, ABHD12, ARG1, ATP7A, AUH, C12orf65, PSEN1, OPTN, OPA1, GLB1, ELOVL4, HSPD1, GARS, AFG3L2, PANK2, OPA3, VCP, ALDH18A1, MTPAP, SPR , (...)

View the complete list with 123 more genes
Specificity
1 %
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
100 %
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
3 %
Genes
100 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH in Germany.

FMR1, AARS2, ABHD12, UQCRQ, BTD, ATP7B, AUH, TWNK, PRKCG, PAX6, INPP5E, AMACR, OPA1, WFS1, GLB1, CC2D2A, ELOVL4, TMEM67, NPHP1, CEP290 , (...)

View the complete list with 184 more genes
Specificity
1 %
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
100 %
Parkinson Dystonia Panel.

By CeGaT GmbH in Germany.

SPR, TH, PLA2G6, GCH1, ATP1A3, TAF1, SLC6A3, PRKRA, SLC30A10
Specificity
12 %
Genes
100 %
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel.

By CeGaT GmbH in Germany.

AARS2, PC, TYROBP, ATP7A, ATP7B, AUH, BCS1L, C12orf65, MMACHC, HSD17B4, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, FOXRED1, NDUFAF2, NDUFA12, NDUFA9 , (...)

View the complete list with 155 more genes
Specificity
1 %
Genes
100 %
Parkinson Syndrome, autosomal recessive Panel.

By CeGaT GmbH in Germany.

PARK7, PINK1, PRKN, PLA2G6, SYNJ1, ATP13A2, FBXO7, DNAJC6, SLC30A10, PODXL, VPS13C
Specificity
10 %
Genes
100 %
Dystonia All Panel.

By CeGaT GmbH in Germany.

ATP7A, ATP7B, AUH, PANK2, MECP2, SPR, TIMM8A, HEXA, SLC25A15, GCDH, CYP27A1, PRKN, CLN3, PNKD, ARSA, ARX, NPC1, NPC2, SLC2A1, ATM , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Single gene testing PLA2G6.

By CeGaT GmbH in Germany.

PLA2G6
Specificity
100 %
Genes
100 %
Ataxia, autosomal recessive and X-linked Panel.

By CeGaT GmbH in Germany.

AFG3L2, MTPAP, COQ8A, SPG7, ABCB7, HEXA, HEXB, FXN, APTX, TPP1, WWOX, ATM, MRE11, SACS, TTPA, PLA2G6, SETX, SYNE1, SYT14, ANO10 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
Dystonia.

By Asper Biogene Asper Biogene LLC in Estonia.

ATP7B, PANK2, SPR, TIMM8A, GCDH, PRKN, PNKD, ARSA, SLC2A1, ATM, TH, PLA2G6, TOR1A, THAP1, GCH1, SGCE, COL6A3, ATP1A3, KCNMA1, PRRT2 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
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
7 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation.

By Asper Biogene Asper Biogene LLC in Estonia.

PANK2, PLA2G6, FA2H, ATP13A2, WDR45, C19orf12, FTL, CP, COASY, DCAF17
Specificity
10 %
Genes
100 %
Karak syndrome.

By Praxis fuer Humangenetik Wien in Austria.

PLA2G6
Specificity
100 %
Genes
100 %
Neuroaxonal dystrophy, infantile 1.

By Praxis fuer Humangenetik Wien in Austria.

PLA2G6
Specificity
100 %
Genes
100 %
Neurodegeneration with brain iron accumulation 2B.

By Praxis fuer Humangenetik Wien in Austria.

PLA2G6
Specificity
100 %
Genes
100 %
Parkinson disease 14.

By Praxis fuer Humangenetik Wien in Austria.

PLA2G6
Specificity
100 %
Genes
100 %
Infantile Neuroaxonal Dystrophy (INAD), PLA2G6, Deletion/Duplication.

By NBIA Testing Center Oregon Health & Science University in United States.

PLA2G6
Specificity
100 %
Genes
100 %
Infantile Neuroaxonal Dystrophy (INAD), PLA2G6, Sequencing and Deletion/Duplication.

By NBIA Testing Center Oregon Health & Science University in United States.

PLA2G6
Specificity
100 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing.

By NBIA Testing Center Oregon Health & Science University in United States.

TRIM32, PANK2, SCP2, SQSTM1, PLA2G6, KIF1A, FA2H, ATP13A2, WDR45, VPS13A, FUCA1, C19orf12, FTL, CP, COASY, DCAF17, KMT2B, MECR, SLC39A14
Specificity
6 %
Genes
100 %
Infantile Neuroaxonal Dystrophy (INAD), PLA2G6, Sequencing.

By NBIA Testing Center Oregon Health & Science University in United States.

PLA2G6
Specificity
100 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication.

By NBIA Testing Center Oregon Health & Science University in United States.

TRIM32, PANK2, SCP2, SQSTM1, PLA2G6, KIF1A, FA2H, ATP13A2, WDR45, VPS13A, FUCA1, C19orf12, FTL, CP, COASY, DCAF17, KMT2B, MECR, SLC39A14
Specificity
6 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication.

By NBIA Testing Center Oregon Health & Science University in United States.

TRIM32, PANK2, SQSTM1, PLA2G6, KIF1A, FA2H, ATP13A2, WDR45, VPS13A, FUCA1, C19orf12, FTL, CP, COASY, DCAF17, SLC39A14
Specificity
7 %
Genes
100 %
Karak syndrome.

By MedGene in Slovakia.

PLA2G6
Specificity
100 %
Genes
100 %
Neuroaxonal dystrophy, infantile 1.

By MedGene in Slovakia.

PLA2G6
Specificity
100 %
Genes
100 %
Neurodegeneration with brain iron accumulation 2B.

By MedGene in Slovakia.

PLA2G6
Specificity
100 %
Genes
100 %
Parkinson disease 14.

By MedGene in Slovakia.

PLA2G6
Specificity
100 %
Genes
100 %
Invitae Neurodegeneration with Brain Iron Accumulation Panel.

By Invitae in United States.

PANK2, SQSTM1, PLA2G6, ATP13A2, WDR45, FUCA1, C19orf12, FTL, CP, COASY, DCAF17
Specificity
10 %
Genes
100 %
Infantile neuroaxonal dystrophy: PLA2G6 gene sequence analysis.

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

PLA2G6
Specificity
100 %
Genes
100 %
Infantile neuroaxonal dystrophy: PLA2G6 gene deletions-duplications analysis (MLPA).

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

PLA2G6
Specificity
100 %
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
10 %
Genes
100 %
DYSTONIA.

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

PANK2, SPR, PRKN, SLC2A1, TH, PLA2G6, TOR1A, THAP1, GCH1, SGCE, ATP1A3, TAF1, PRKRA
Specificity
8 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation Disorders.

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

PANK2, PLA2G6, FA2H, ATP13A2, WDR45, C19orf12, FTL, CP, DCAF17
Specificity
12 %
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
3 %
Genes
100 %
NGS panel - Neurodegeneration with brain iron accumulation.

By Genome Diagnostics VU University Medical Center in Netherlands.

PANK2, PLA2G6, FA2H, ATP13A2, WDR45, C19orf12, FTL, CP, COASY, DCAF17
Specificity
10 %
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
100 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
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
3 %
Genes
100 %
PLA2G6.

By Fulgent Genetics Fulgent Genetics in United States.

PLA2G6
Specificity
100 %
Genes
100 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
100 %
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
5 %
Genes
100 %
Adult-onset dystonia-parkinsonism.

By Bioarray in Spain.

PLA2G6
Specificity
100 %
Genes
100 %
Infantile neuroaxonal dystrophy.

By Bioarray in Spain.

PLA2G6
Specificity
100 %
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
12 %
Genes
100 %
PLA2G6 Gene Sequencing and Deletion/Duplication Analysis.

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

PLA2G6
Specificity
100 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation NGS and Deletion/Duplication Panel.

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

PANK2, PLA2G6, FA2H, ATP13A2, WDR45, C19orf12, FTL, CP, DCAF17
Specificity
12 %
Genes
100 %
INFANTILE NEUROAXONAL DYSTROPHY (INFANTILE NEUROAXONAL DYSTROPHY).

By Laboratorio de Genetica Clinica SL in Spain.

PLA2G6
Specificity
100 %
Genes
100 %
PLA2G6-RELATED NEURODEGENERATION.

By Laboratorio de Genetica Clinica SL in Spain.

PLA2G6
Specificity
100 %
Genes
100 %
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION (NBIA): NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

PANK2, PLA2G6, FA2H, ATP13A2, WDR45, C19orf12, FTL, CP, COASY
Specificity
12 %
Genes
100 %
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
6 %
Genes
100 %
PARK14 Parkinson.

By LifeLabs Genetics in Canada.

PLA2G6
Specificity
100 %
Genes
100 %
Infantile Neuroaxonal Dystrophy , Sequencing PLA2G6 Gene.

By Reference Laboratory Genetics in Spain.

PLA2G6
Specificity
100 %
Genes
100 %
Infantile Neuroaxonal Distrophy , Deletions-Duplications (MLPA) PLA2G6 Gene.

By Reference Laboratory Genetics in Spain.

PLA2G6
Specificity
100 %
Genes
100 %
Dystonia and Related Disorders , Panel Massive Sequencing (NGS) 13 Genes.

By Reference Laboratory Genetics in Spain.

PANK2, SPR, PRKN, SLC2A1, TH, PLA2G6, TOR1A, THAP1, GCH1, SGCE, ATP1A3, TAF1, PRKRA
Specificity
8 %
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
10 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

PANK2, PLA2G6, FA2H, ATP13A2, WDR45, C19orf12, FTL, CP, COASY, DCAF17
Specificity
10 %
Genes
100 %
Neurodegeneration Associated to Pantothenate Kinase , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

PANK2, PLA2G6, FA2H, ATP13A2, WDR45, C19orf12, FTL, CP, DCAF17
Specificity
12 %
Genes
100 %
PLA2G6-Associated Neurodegeneration: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

PLA2G6
Specificity
100 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation Disorders: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

PANK2, PLA2G6, FA2H, ATP13A2, WDR45, C19orf12, FTL, CP, COASY, DCAF17
Specificity
10 %
Genes
100 %

Alternate names

Neurodegeneration With Brain Iron Accumulation 2b; Nbia2b Is also known as neurodegeneration with brain iron accumulation, pla2g6-related, neuroaxonal dystrophy, atypical.


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