Neuropathy, Hereditary Sensory And Autonomic, Type Ia; Hsan1a

Description

The hereditary sensory and autonomic neuropathies (HSAN), which are also referred to as hereditary sensory neuropathies (HSN) in the absence of significant autonomic features, are a genetically and clinically heterogeneous group of disorders associated with sensory dysfunction.HSAN1 is a dominantly inherited sensorimotor axonal neuropathy with onset in the first or second decades of life. Genetic Heterogeneity of Hereditary Sensory and Autonomic NeuropathySee also HSAN1C (OMIM ), caused by mutation in the SPTLC2 gene (OMIM ) on 14q24; HSN1D (OMIM ), caused by mutation in the ATL1 gene (OMIM ) on 14q; HSN1E (OMIM ), caused by mutation in the DNMT1 gene (OMIM ) on 19p13; HSN1F (OMIM ), caused by mutation in the ATL3 gene (OMIM ) on 11q13; HSAN2A (OMIM ), caused by mutation in the HSN2 isoform of the WNK1 gene (OMIM ) on 12p13; HSAN2B (OMIM ), caused by mutation in the FAM134B gene (OMIM ) on 5p15; HSN2C (OMIM ), caused by mutation in the KIF1A gene (OMIM ) on 2q37; HSAN2D (see {243000}), caused by mutation in the SCN9A gene (OMIM ) on 2q24; HSAN3 (OMIM ), caused by mutation in the IKBKAP gene (OMIM ) on 9q31; HSAN4 (OMIM ), caused by mutation in the NTRK1 gene (OMIM ) on 1q23; HSAN5 (OMIM ), caused by mutation in the NGF gene (OMIM ) on 1p13; HSAN6 (OMIM ), caused by mutation in the DST gene (OMIM ) on 6p; HSAN7 (OMIM ), caused by mutation in the SCN11A gene (OMIM ) on 3p22; and HSAN8 (OMIM ), caused by mutation in the PRDM12 gene (OMIM ) on chromosome 9q34.Adult-onset HSAN with anosmia (OMIM ) is believed to be another distinct form of HSAN, and HSAN1B (OMIM ) with cough and gastroesophageal reflux maps to chromosome 3p24-p22.

Clinical Features

Top most frequent phenotypes and symptoms related to Neuropathy, Hereditary Sensory And Autonomic, Type Ia; Hsan1a

  • Intellectual disability
  • Generalized hypotonia
  • Pica
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness
  • Peripheral neuropathy
  • Pain
And another 27 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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Neuropathy, Hereditary Sensory And Autonomic, Type Ia; Hsan1a Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SPTLC1 DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

SPTLC1
Specificity
100 %
Genes
25 %
Late Onset Hereditary Sensory and Autonomic Neuropathy (HSAN) Evaluation.

By Athena Diagnostics Inc in United States.

SPTLC2, SPTLC1
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth Syndrome.

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

GARS, KIF1B, MFN2, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
25 %
Charcot Marie Tooth Panel.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

TTR, GARS, KIF1B, MFN2, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
25 %
SPTLC1.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

SPTLC1
Specificity
100 %
Genes
25 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

ATP7A, FBLN5, GARS, KIF1B, MFN2, HARS, KARS, SPTLC2, REEP1, AIFM1, HEXA, HK1, ELP1, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2 , (...)

View the complete list with 58 more genes
Specificity
4 %
Genes
75 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

ATP7A, FBLN5, GARS, KIF1B, MFN2, HARS, KARS, SPTLC2, REEP1, AIFM1, HEXA, HK1, ELP1, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2 , (...)

View the complete list with 58 more genes
Specificity
4 %
Genes
75 %
SPTLC1. Complete sequencing.

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

SPTLC1
Specificity
100 %
Genes
25 %
Hereditary Sensory Neuropathy Type IA (sequence analysis of SPTLC1 gene).

By CGC Genetics in Portugal.

SPTLC1
Specificity
100 %
Genes
25 %
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes).

By CGC Genetics in Portugal.

TTR, ABHD12, TWNK, C12orf65, GARS, KIF1B, MFN2, KARS, SPTLC2, REEP1, TYMP, AIFM1, PHYH, HK1, SEPT9, ELP1, SLC12A6, NDRG1, SBF2, PRX , (...)

View the complete list with 54 more genes
Specificity
6 %
Genes
100 %
Hereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

POLG, SPTLC2, FLVCR1, ELP1, RAB7A, NTRK1, WNK1, SPTLC1, ATL1, KIF1A, SCN9A, DNMT1, CCT5, DST, RETREG1, NGF, SCN11A, ATL3, CLTCL1, PRDM12
Specificity
20 %
Genes
100 %
Comprehensive Neuropathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TTR, ATP7A, FBLN5, GARS, MFN2, KARS, SPTLC2, REEP1, AIFM1, HK1, ELP1, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1 , (...)

View the complete list with 51 more genes
Specificity
5 %
Genes
75 %
Hereditary Sensory Neuropathy Type IA via the SPTLC1 Gene.

By PreventionGenetics PreventionGenetics in United States.

SPTLC1
Specificity
100 %
Genes
25 %
Neuropathy.

By MGZ Medical Genetics Center in Germany.

TTR, ABHD12, ATP7A, C12orf65, GAA, FBLN5, OPTN, AMACR, POLG, GARS, MFN2, HADHA, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, SQSTM1 , (...)

View the complete list with 102 more genes
Specificity
4 %
Genes
100 %
Hereditary Sensory Neuropathy Type IA.

By MGZ Medical Genetics Center in Germany.

SPTLC1
Specificity
100 %
Genes
25 %
HSAN1.

By Centogene AG - the Rare Disease Company in Germany.

SPTLC1
Specificity
100 %
Genes
25 %
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
75 %
Charcot-Marie-Tooth and Sensory Neuropathies Panel.

By CeGaT GmbH in Germany.

TTR, ABHD12, TWNK, C12orf65, FBLN5, OPA1, POLG, GARS, KIF1B, MFN2, HADHA, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, AIFM1, SURF1, HK1 , (...)

View the complete list with 64 more genes
Specificity
5 %
Genes
100 %
Single gene testing SPTLC1.

By CeGaT GmbH in Germany.

SPTLC1
Specificity
100 %
Genes
25 %
SPTLC1 - Gene sequencing.

By Clinical Genetics Academic Medical Center in Netherlands.

SPTLC1
Specificity
100 %
Genes
25 %
Charcot-Marie-Tooth Disease.

By Asper Biogene Asper Biogene LLC in Estonia.

C12orf65, POLG, GARS, KIF1B, MFN2, VCP, HARS, KARS, SPTLC2, REEP1, TYMP, AIFM1, SURF1, NAGLU, HK1, ARSA, NDRG1, SBF2, PRX, FIG4 , (...)

View the complete list with 47 more genes
Specificity
3 %
Genes
50 %
Neuropathy, hereditary sensory and autonomic I.

By Praxis fuer Humangenetik Wien in Austria.

SPTLC1
Specificity
100 %
Genes
25 %
Neuropathy, hereditary sensory and autonomic I.

By MedGene in Slovakia.

SPTLC1
Specificity
100 %
Genes
25 %
Invitae Comprehensive Neuropathies Panel.

By Invitae in United States.

TTR, ATP7A, GARS, MFN2, HARS, SPTLC2, REEP1, AIFM1, ELP1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22 , (...)

View the complete list with 50 more genes
Specificity
6 %
Genes
100 %
Invitae Hereditary Sensory and Autonomic Neuropathy Panel.

By Invitae in United States.

SPTLC2, ELP1, RAB7A, NTRK1, WNK1, SPTLC1, ATL1, KIF1A, SCN9A, DNMT1, DST, RETREG1, NGF, SCN11A, ATL3
Specificity
27 %
Genes
100 %
Hereditary Neuropathies: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, ATP7A, TWNK, PRKCG, POLG, GARS, KIF1B, MFN2, SPTLC2, COQ8A, REEP1, SPG7, ALDH3A2, PHYH, FXN, APTX, ELP1, GLA, PLP1, ATM , (...)

View the complete list with 70 more genes
Specificity
4 %
Genes
75 %
Hereditary Neuropathies: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, ATP7A, TWNK, PRKCG, POLG, GARS, KIF1B, MFN2, SPTLC2, COQ8A, REEP1, SPG7, ALDH3A2, PHYH, FXN, APTX, ELP1, GLA, PLP1, ATM , (...)

View the complete list with 70 more genes
Specificity
4 %
Genes
75 %
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
50 %
Charcot Marie Tooth Disease Extended NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TTR, ATP7A, GARS, KIF1B, MFN2, SPTLC2, REEP1, ELP1, GLA, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ , (...)

View the complete list with 29 more genes
Specificity
7 %
Genes
75 %
SPTLC1.

By Fulgent Genetics Fulgent Genetics in United States.

SPTLC1
Specificity
100 %
Genes
25 %
Charcot-Marie-Tooth Neuropathy Panel.

By Blueprint Genetics in Finland.

TTR, ATP7A, C12orf65, FBLN5, AMACR, GNE, POLG, GARS, KIF1B, MFN2, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, AIFM1, SURF1, HK1 , (...)

View the complete list with 78 more genes
Specificity
5 %
Genes
100 %
Hereditary sensory and autonomic neuropathy type 1A.

By Bioarray in Spain.

SPTLC1
Specificity
100 %
Genes
25 %
Hereditary Sensory and Autonomous Neuropathy Type IA , Sequencing SPTLC1 Gene.

By Reference Laboratory Genetics in Spain.

SPTLC1
Specificity
100 %
Genes
25 %
Hereditary Sensory Neuropathy Type IA: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SPTLC1
Specificity
100 %
Genes
25 %
ATL3.

By Fulgent Genetics Fulgent Genetics in United States.

ATL3
Specificity
100 %
Genes
25 %
Hereditary sensory neuropathy type IF.

By Labor Dr. Wisplinghoff in Germany.

ATL3
Specificity
100 %
Genes
25 %
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
25 %
SPTLC2 DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

SPTLC2
Specificity
100 %
Genes
25 %
SPTLC2. Complete sequencing.

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

SPTLC2
Specificity
100 %
Genes
25 %
Hereditary Sensory and Autonomic Neuropathy Type IC (sequence analysis of SPTLC2 gene).

By CGC Genetics in Portugal.

SPTLC2
Specificity
100 %
Genes
25 %
Hereditary Sensory and Autonomic Neuropathy Type IC.

By MGZ Medical Genetics Center in Germany.

SPTLC2
Specificity
100 %
Genes
25 %
Hereditary Neuropathies NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TTR, GARS, KIF1B, MFN2, SPTLC2, GLA, NDRG1, SBF2, PRX, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A , (...)

View the complete list with 13 more genes
Specificity
7 %
Genes
50 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
25 %
SPTLC2.

By Fulgent Genetics Fulgent Genetics in United States.

SPTLC2
Specificity
100 %
Genes
25 %
Hereditary sensory and autonomic neuropathy type 1C.

By Bioarray in Spain.

SPTLC2
Specificity
100 %
Genes
25 %
Hereditary Sensory and Autonomic Neuropathy Type IC , Sequencing SPTLC2 Gene.

By Reference Laboratory Genetics in Spain.

SPTLC2
Specificity
100 %
Genes
25 %
ATL1 (HSAN) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

ATL1
Specificity
100 %
Genes
25 %
Atlastin (SPG3A) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

ATL1
Specificity
100 %
Genes
25 %
HSP, Common Dominant Evaluation.

By Athena Diagnostics Inc in United States.

REEP1, ATL1, SPAST, KIF5A
Specificity
25 %
Genes
25 %
HSP, Comprehensive Evaluation.

By Athena Diagnostics Inc in United States.

HSPD1, REEP1, SPG7, PLP1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, PNPLA6, KIF1A, CYP7B1, AP5Z1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
25 %
HSP, Supplemental Sporadic Evaluation.

By Athena Diagnostics Inc in United States.

HSPD1, REEP1, PLP1, SACS, ATL1, ZFYVE26, SPG11, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
25 %
HSP, Complete Dominant Evaluation.

By Athena Diagnostics Inc in United States.

HSPD1, REEP1, ATL1, SPAST, KIF5A, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2
Specificity
10 %
Genes
25 %
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
25 %
Hereditary Spastic Paraplegia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

C12orf65, HSPD1, ALDH18A1, REEP1, SPG7, ABCD1, FARS2, GJC2, PLP1, SLC2A1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
25 %
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
25 %
Hereditary spastic paraplegia type 3.

By Human Genetics Ruhr University in Germany.

ATL1
Specificity
100 %
Genes
25 %
Hereditary Spastic Paraplegia 3A.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

ATL1
Specificity
100 %
Genes
25 %
Atlastin GTPase 1 (ATL1) gene sequencing test.

By Neurogenetics Department Cyprus Institute of Neurology and Genetics in Cyprus.

ATL1
Specificity
100 %
Genes
25 %
Spastin (SPAST) and Atlastin (ATL1) gene dosage evaluation by MLPA analysis.

By Neurogenetics Department Cyprus Institute of Neurology and Genetics in Cyprus.

ATL1, SPAST
Specificity
50 %
Genes
25 %
SPG3A. Complete sequencing.

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

ATL1
Specificity
100 %
Genes
25 %
Spastic paraplegia 3A and 4 (SPG3A/SPG4, deletion/duplication analysis of ATL1 and SPAST genes).

By CGC Genetics in Portugal.

ATL1, SPAST
Specificity
50 %
Genes
25 %
Spastic Paraplegia 3A (sequence analysis of ATL1 gene).

By CGC Genetics in Portugal.

ATL1
Specificity
100 %
Genes
25 %
Hereditary spastic paraplegia AD (NGS panel for 10 genes).

By CGC Genetics in Portugal.

HSPD1, REEP1, ATL1, SPAST, KIF5A, NIPA1, SLC33A1, BSCL2, WASHC5, ZFYVE27
Specificity
10 %
Genes
25 %
Hereditary spastic paraplegia (NGS panel for 43 genes).

By CGC Genetics in Portugal.

C12orf65, HSPD1, REEP1, SPG7, GJC2, PLP1, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, PNPLA6, KIF1A, CYP7B1 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
25 %
Spastic Paraplegia 3A via the ATL1 Gene.

By PreventionGenetics PreventionGenetics in United States.

ATL1
Specificity
100 %
Genes
25 %
Pure Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HSPD1, REEP1, SPG7, FARS2, PLP1, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, NIPA1, SLC33A1, WASHC5, RTN2, KIF1A, CYP7B1, AP5Z1, BICD2, ERLIN1, REEP2 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
25 %
Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

C12orf65, VCP, ALDH18A1, REEP1, SPG7, GAD1, ABCD1, GJC2, PLP1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, BSCL2, WASHC5, PNPLA6 , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
25 %
Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

C12orf65, HSPD1, VCP, ALDH18A1, REEP1, SPG7, GAD1, ABCD1, FARS2, GJC2, PLP1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
25 %
ATL1.

By MGZ Medical Genetics Center in Germany.

ATL1
Specificity
100 %
Genes
25 %
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
25 %
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
25 %
SPASTIC PARAPLEGIA 3.

By Centogene AG - the Rare Disease Company in Germany.

ATL1
Specificity
100 %
Genes
25 %
Spastic paraplegia AD panel.

By Centogene AG - the Rare Disease Company in Germany.

HSPD1, REEP1, ATL1, SPAST, KIF5A, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, ZFYVE27
Specificity
10 %
Genes
25 %
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
25 %
Nuclear encoded Mitochondriopathies Panel.

By CeGaT GmbH in Germany.

MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
25 %
Single gene testing ATL1.

By CeGaT GmbH in Germany.

ATL1
Specificity
100 %
Genes
25 %
Hereditary spastic paraplegia (HSP), autosomal dominant and X-linked Panel.

By CeGaT GmbH in Germany.

ABHD12, HSPD1, ALDH18A1, REEP1, ATL1, SPAST, KIF5A, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, REEP2, CPT1C, ZFYVE27, KANK1, ATP2B4
Specificity
6 %
Genes
25 %
Hereditary Spastic Paraplegia.

By Asper Biogene Asper Biogene LLC in Estonia.

HSPD1, REEP1, SPG7, GJC2, PLP1, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, BSCL2, WASHC5, RTN2, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
25 %
Hereditary spastic paraplegia, SPG3A sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

ATL1
Specificity
100 %
Genes
25 %
Neuropathy, hereditary sensory, type ID.

By Praxis fuer Humangenetik Wien in Austria.

ATL1
Specificity
100 %
Genes
25 %
Spastic Paraplegia 3A.

By Praxis fuer Humangenetik Wien in Austria.

ATL1
Specificity
100 %
Genes
25 %
Neuropathy, hereditary sensory, type ID.

By MedGene in Slovakia.

ATL1
Specificity
100 %
Genes
25 %
Spastic Paraplegia 3A.

By MedGene in Slovakia.

ATL1
Specificity
100 %
Genes
25 %
Invitae Hereditary Spastic Paraplegia Autosomal Dominant Panel.

By Invitae in United States.

HSPD1, ALDH18A1, REEP1, ATL1, SPAST, KIF5A, NIPA1, BSCL2, WASHC5, RTN2, KIF1A, VAMP1
Specificity
9 %
Genes
25 %
Invitae Hereditary Spastic Paraplegia Comprehensive Panel.

By Invitae in United States.

C12orf65, HSPD1, ALDH18A1, REEP1, SPG7, ABCD1, GJC2, PLP1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, BSCL2, WASHC5, RTN2, PNPLA6 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
25 %
Spastic paraplegia 3A: SPG3 (ATL1) gene sequence analysis.

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

ATL1
Specificity
100 %
Genes
25 %
SPASTIC PARAPLEGIA A.D..

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

HSPD1, REEP1, ATL1, SPAST, KIF5A, NIPA1, SLC33A1, BSCL2, WASHC5, ZFYVE27
Specificity
10 %
Genes
25 %
Spastic Paraplegia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

OPA3, REEP1, SPG7, ABCD1, ACOX1, PLP1, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, KIF1A, CYP7B1, AP5Z1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
25 %
ATL1.

By Fulgent Genetics Fulgent Genetics in United States.

ATL1
Specificity
100 %
Genes
25 %
Spastic Paraplegia Panel.

By Blueprint Genetics in Finland.

ARG1, BTD, C12orf65, HSPD1, AFG3L2, SPR, REEP1, SPG7, ABCD1, PAH, GALC, SLC25A15, L2HGDH, GBE1, FXN, CYP27A1, FARS2, GJC2, PLP1, SACS , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
25 %
Amyotrophic Lateral Sclerosis Panel.

By Blueprint Genetics in Finland.

OPTN, HSPD1, VCP, REEP1, GRN, SQSTM1, HEXA, GBE1, SOD1, PRF1, FIG4, ATL1, SPG11, SPAST, KIF5A, BSCL2, WASHC5, SPART, ALS2, FUS , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
25 %
Autosomal dominant spastic paraplegia type 3.

By Bioarray in Spain.

ATL1
Specificity
100 %
Genes
25 %
SPASTIC PARAPLEGIA, FAMILIAL (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

HSPD1, REEP1, ATL1, SPAST, KIF5A, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, ZFYVE27
Specificity
10 %
Genes
25 %
Spastic paraplegia panel, autosomal dominant.

By LifeLabs Genetics in Canada.

POLG, HSPD1, REEP1, POLG2, ATL1, SPAST, KIF5A, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, ZFYVE27
Specificity
8 %
Genes
25 %
Familial Spastic Paraplegia Type 3A , Sequencing ATL1 Gene.

By Reference Laboratory Genetics in Spain.

ATL1
Specificity
100 %
Genes
25 %
Autosomal Dominant Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

HSPD1, REEP1, ATL1, SPAST, KIF5A, NIPA1, SLC33A1, BSCL2, WASHC5
Specificity
12 %
Genes
25 %
Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 22 Genes.

By Reference Laboratory Genetics in Spain.

HSPD1, REEP1, SPG7, GJC2, PLP1, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
25 %
Hereditary Spastic Paraplegia: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

C12orf65, HSPD1, REEP1, GAD1, GJC2, PLP1, ATL1, ZFYVE26, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, KIF1A, CYP7B1, AP5Z1, FA2H , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
25 %
Spastic Paraplegia 3A: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ATL1
Specificity
100 %
Genes
25 %
Spastic Paraplegia 3A: gene deletion/duplication.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ATL1
Specificity
100 %
Genes
25 %

Alternate names

Neuropathy, Hereditary Sensory And Autonomic, Type Ia; Hsan1a Is also known as hsan ia, hsan1, neuropathy, hereditary sensory, type ia;hsn1a, hsn ia, neuropathy, hereditary sensory radicular, autosomal dominant, type 1a;hsan1; hereditary sensory and autonomic neuropathy type i.



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