Neurodegeneration With Brain Iron Accumulation 3; Nbia3

Description

Neurodegeneration with brain iron accumulation is a genetically heterogeneous disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. Age at onset, cognitive involvement, and mode of inheritance is variable (review by Gregory et al., 2009).

Clinical Features

Top most frequent phenotypes and symptoms related to Neurodegeneration With Brain Iron Accumulation 3; Nbia3

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Pica
  • Ataxia
  • Cognitive impairment
  • Spasticity
  • Hyperreflexia
  • Dysarthria
  • Optic atrophy
And another 55 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 3; Nbia3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Neuroferritinopathy, FLT, Sequencing.

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

FTL
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 %
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 %
FTL Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

FTL
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 %
Hyperferritinemia Panel.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

HFE, ALAS2, SLC25A38, CDAN1, SEC23B, FTL, CP, SLC40A1, TFR2, HAMP, HJV, B2M, FTH1, STEAP3, TF
Specificity
7 %
Genes
100 %
FTL. Secuencing of the IRE region.

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

FTL
Specificity
100 %
Genes
100 %
Hyperferritinemia with/without cataract syndrome (sequence of the IRE region of FTL gene).

By CGC Genetics in Portugal.

FTL
Specificity
100 %
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 %
Hyperferritinemia-cataract syndrome (sequence analysis of FTL gene).

By CGC Genetics in Portugal.

FTL
Specificity
100 %
Genes
100 %
Neurodegeneration with brain iron accumulation (NBIA, sequence analysis of FTL gene).

By CGC Genetics in Portugal.

FTL
Specificity
100 %
Genes
100 %
Cataracts (NGS panel for 41 genes).

By CGC Genetics in Portugal.

EYA1, PAX6, PITX3, WFS1, NHS, CRYAB, AGK, FYCO1, GJA3, GALT, GALK1, SIL1, MAF, FOXE3, CTDP1, FTL, CRYBA4, GJA8, GCNT2, CRYBB1 , (...)

View the complete list with 21 more genes
Specificity
3 %
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 %
Hemochromatosis (NGS panel for 8 genes).

By CGC Genetics in Portugal.

HFE, FTL, SLC40A1, TFR2, HAMP, HJV, FTH1, BMP2
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 %
Hemochromatosis (NGS panel for 8 genes).

By CGC Genetics in Portugal.

HFE, FTL, SLC40A1, TFR2, HAMP, HJV, FTH1, BMP2
Specificity
13 %
Genes
100 %
Hereditary Hemochromatosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FTL, SLC40A1, TFR2, HAMP, HJV, FTH1
Specificity
15 %
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 %
Cataract.

By MGZ Medical Genetics Center in Germany.

EYA1, COL2A1, PAX6, ABCB6, WFS1, FOXC1, PITX2, NHS, CRYAB, OPA3, FYCO1, GJA3, GALK1, CYP27A1, SIX6, GLA, SLC33A1, SIL1, COL4A1, RAB3GAP1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Eye Diseases - panels.

By MGZ Medical Genetics Center in Germany.

C12orf65, FOXL2, RAX, TYRP1, EYA1, LRP5, COL2A1, COL3A1, OCA2, VSX1, SLC45A2, PAX6, ZEB1, TGFBI, TUBB3, TYR, GPR143, OPA1, ABCB6, WFS1 , (...)

View the complete list with 147 more genes
Specificity
1 %
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 %
Cataract panel.

By Centogene AG - the Rare Disease Company in Germany.

EYA1, PAX6, PITX3, WFS1, FOXC1, NHS, CRYAB, AGK, FYCO1, GJA3, BCOR, GALK1, MAF, FOXE3, CTDP1, FTL, VSX2, CRYBA4, GJA8, GCNT2 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
Hyperferritinemia-cataract syndrome.

By Centogene AG - the Rare Disease Company in Germany.

FTL
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 %
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 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 %
Choreatic Movement Disorders Panel.

By CeGaT GmbH in Germany.

HTT, OPA3, GM2A, ATXN1, ATM, C9orf72, ATXN2, ATXN3, ATXN7, TBP, KCNA1, GNAO1, NKX2-1, JPH3, FTL, PDE10A, PRNP, ADCY5, RNF216, FRRS1L , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Cataract Panel.

By CeGaT GmbH in Germany.

EYA1, PAX6, PITX3, NHS, CRYAB, AGK, FYCO1, GJA3, BCOR, GALK1, SIL1, MAF, FOXE3, FTL, CRYBA4, GJA8, GCNT2, CRYBB1, CRYBB3, TDRD7 , (...)

View the complete list with 21 more genes
Specificity
3 %
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 %
Dystonia Plus Syndrome Panel.

By CeGaT GmbH in Germany.

SPR, TH, GCH1, SGCE, ATP1A3, RELN, TAF1, KIF1C, TUBB4A, FTL, PRKRA, COX20, BCAP31, SLC30A10
Specificity
8 %
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 FTL.

By CeGaT GmbH in Germany.

FTL
Specificity
100 %
Genes
100 %
Hereditary Hyperferritinemia-cataract syndrome (FTL).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

FTL
Specificity
100 %
Genes
100 %
Neuroferritinopathy (FTL, NBIA3).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

FTL
Specificity
100 %
Genes
100 %
Cataract.

By Asper Biogene Asper Biogene LLC in Estonia.

EYA1, PAX6, PITX3, NHS, CRYAB, AGK, FYCO1, GJA3, BCOR, GALK1, SIX6, SIL1, MAF, CTDP1, GJA1, FTL, VSX2, CRYBA4, GJA8, GCNT2 , (...)

View the complete list with 24 more genes
Specificity
3 %
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 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC in Estonia.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, OPN1MW, SPATA7, TYRP1, LRP5, COL2A1, VSX1, SLC45A2, PAX6, ZEB1, CHM, TGFBI, PITX3, TYR , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
NGS Panel for Hemochromatosis and Hyperferritinemia /Hypoferritinemia Panel.

By BLOODGENETICS BLOODGENETICS in Spain.

HFE, FTL, SLC40A1, TFR2, HAMP, HJV, FTH1, ATP4A, BMP6
Specificity
12 %
Genes
100 %
Neuroferritinopathy.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

FTL
Specificity
100 %
Genes
100 %
Hyperferritinemia-cataract syndrome.

By Praxis fuer Humangenetik Wien in Austria.

FTL
Specificity
100 %
Genes
100 %
Neuroferritinopathy.

By Praxis fuer Humangenetik Wien in Austria.

FTL
Specificity
100 %
Genes
100 %
Neuroferritinopathy, FTL, Sequencing.

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

FTL
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 %
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 %
Hyperferritinemia-cataract syndrome.

By MedGene in Slovakia.

FTL
Specificity
100 %
Genes
100 %
Neuroferritinopathy.

By MedGene in Slovakia.

FTL
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 %
Hyperferritinemia-cataract syndrome: FTL gene regulatory region sequence analysis.

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

FTL
Specificity
100 %
Genes
100 %
Neuroferritinopathy: FTL gene sequence analysis.

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

FTL
Specificity
100 %
Genes
100 %
L-ferritin deficiency: FTL gene sequence analysis.

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

FTL
Specificity
100 %
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 %
FTL - Gene sequencing.

By Genome Diagnostics VU University Medical Center in Netherlands.

FTL
Specificity
100 %
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 %
FTL.

By Fulgent Genetics Fulgent Genetics in United States.

FTL
Specificity
100 %
Genes
100 %
Cataract Panel.

By Blueprint Genetics in Finland.

RECQL4, EYA1, COL2A1, PAX6, PITX3, ABCB6, WFS1, OCRL, NDP, NHS, CRYAB, OPA3, AGK, ALDH18A1, TMEM70, FYCO1, GJA3, BCOR, GALT, GALE , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
Hereditary hyperferritinemia with congenital cataracts.

By Bioarray in Spain.

FTL
Specificity
100 %
Genes
100 %
Hemochromatosis NGS and Deletion and Duplication Panel.

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

HFE, FTL, SLC40A1, TFR2, HAMP, HJV, FTH1
Specificity
15 %
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 %
FTL Gene Sequencing and Deletion/Duplication Analysis.

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

FTL
Specificity
100 %
Genes
100 %
Next Generation Sequencing for Jaundice Associated Genes Variation Test.

By National Taiwan University Hospital A1 Center National Taiwan University Hospital in Taiwan.

HFE, ABCB11, ABCB4, ATP7B, ATP8B1, BCS1L, TWNK, INVS, HBB, HNF1B, AMACR, JAG1, POLG, RRM2B, SLC25A13, DGUOK, MPV17, SUCLG1, ASS1, CYP27A1 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
NEUROFERRITINOPATHY.

By Laboratorio de Genetica Clinica SL in Spain.

FTL
Specificity
100 %
Genes
100 %
HYPERFERRITINEMIA WITH CONGENITAL CATARACTS.

By Laboratorio de Genetica Clinica SL in Spain.

FTL
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 %
Neuroferritinopathy , Sequencing FTL Gene.

By Reference Laboratory Genetics in Spain.

FTL
Specificity
100 %
Genes
100 %
Hyperferritinemia and Cataract Syndrome, Sequencing Regulatory Zone FTL Gene.

By Reference Laboratory Genetics in Spain.

FTL
Specificity
100 %
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 %
Neuroferritinopathy.

By Labor Dr. Wisplinghoff in Germany.

FTL
Specificity
100 %
Genes
100 %
L-ferritin deficiency.

By Labor Dr. Wisplinghoff in Germany.

FTL
Specificity
100 %
Genes
100 %
Hyperferritinemia cataract syndrome.

By Labor Dr. Wisplinghoff in Germany.

FTL
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 %
Neuroferritinopathy: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

FTL
Specificity
100 %
Genes
100 %

Alternate names

Neurodegeneration With Brain Iron Accumulation 3; Nbia3 Is also known as neuroferritinopathy, basal ganglia disease, adult-onset;adult basal ganglia disease; ferritin-related neurodegeneration; hereditary ferritinopathy.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like STUTTERING, FAMILIAL PERSISTENT, 1; STUT1 NOONAN SYNDROME 1; NS1 NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; SCNX FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH

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