Spastic Paraplegia 4, Autosomal Dominant; Spg4

Description

The hereditary spastic paraplegias (SPG, HSP) are a group of clinically and genetically diverse inherited disorders characterized predominantly by progressive lower extremity spasticity and weakness. SPG is classified by mode of inheritance (autosomal dominant, autosomal recessive, and X-linked) and whether the primary symptoms occur in isolation ('uncomplicated') or with other neurologic abnormalities ('complicated').Pure SPG4 is the most common form of autosomal dominant hereditary SPG, comprising up to 45% of cases (Svenson et al., 2001; Crippa et al., 2006).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Spastic Paraplegia 4, Autosomal Dominant; Spg4

  • Intellectual disability
  • Seizures
  • Pica
  • Ataxia
  • Nystagmus
  • Milia
  • Cognitive impairment
  • Spasticity
  • Nevus
  • Peripheral neuropathy
And another 49 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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Spastic Paraplegia 4, Autosomal Dominant; Spg4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NLRC4 Sequencing.

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

NLRC4
Specificity
100 %
Genes
25 %
NLRC4.

By Institute for Human Genetics University Clinic Freiburg in Germany.

NLRC4
Specificity
100 %
Genes
25 %
Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AP3B1, ADA, IL2RG, PNP, PRF1, SLC7A7, WAS, BTK, NLRP3, MVK, MAGT1, BLOC1S6, LYST, MEFV, SH2D1A, RAB27A, UNC13D, STX11, XIAP, STXBP2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
25 %
Single gene testing NLRC4.

By CeGaT GmbH in Germany.

NLRC4
Specificity
100 %
Genes
25 %
Invitae Periodic Fever Syndromes Panel.

By Invitae in United States.

NLRP3, MVK, PSMB8, MEFV, ELANE, LPIN2, TNFRSF1A, NLRC4, ADA2, PSTPIP1, NLRP12, TRNT1
Specificity
9 %
Genes
25 %
Invitae Monogenic Inflammatory Bowel Disease Panel.

By Invitae in United States.

STAT1, SLC37A4, CYBA, STAT3, ADA, IL2RG, CYBB, DCLRE1C, RTEL1, WAS, BTK, MVK, FOXP3, DKC1, DOCK8, MEFV, SH2D1A, NCF2, NCF4, STIM1 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
25 %
Invitae Primary Immunodeficiency Panel.

By Invitae in United States.

PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
25 %
Invitae Autoinflammatory Syndromes Panel.

By Invitae in United States.

NLRP3, MVK, PSMB8, MEFV, SH3BP2, NOD2, SLC29A3, ELANE, LPIN2, TNFRSF1A, IL10RA, NLRC4, IL10RB, ADA2, PSTPIP1, NLRP12, TRNT1, IL36RN, CARD14, IL1RN , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
25 %
Invitae Familial Cold Autoinflammatory Syndrome Panel.

By Invitae in United States.

NLRP3, NLRC4, NLRP12, PLCG2
Specificity
25 %
Genes
25 %
Hemophagocytic Lymphohistiocytosis: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AP3B1, GATA2, PRF1, SLC7A7, MAGT1, BLOC1S6, LYST, SH2D1A, RAB27A, UNC13D, STX11, XIAP, STXBP2, ITK, CD27, NLRC4
Specificity
7 %
Genes
25 %
NLRC4.

By Fulgent Genetics Fulgent Genetics in United States.

NLRC4
Specificity
100 %
Genes
25 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
25 %
Autoinflammatory Syndrome Panel.

By Blueprint Genetics in Finland.

SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, NLRP3, MVK, PSMB8, IFIH1, ADAR, MEFV, NOD2, SLC29A3, ELANE, LPIN2, TNFRSF1A, NLRC4, ISG15, PSTPIP1, NLRP12 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
25 %
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

NLRP3, NLRC4, NLRP12
Specificity
34 %
Genes
25 %
DPY30.

By Fulgent Genetics Fulgent Genetics in United States.

DPY30
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 %
SPG4 Evaluation.

By Athena Diagnostics Inc in United States.

SPAST
Specificity
100 %
Genes
25 %
HSP, Common Sporadic Evaluation.

By Athena Diagnostics Inc in United States.

SPG7, SPAST
Specificity
50 %
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 %
Autsim Panel.

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

FMR1, UBE3A, PTEN, ADSL, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1 , (...)

View the complete list with 87 more genes
Specificity
1 %
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 %
Spastic Paraplegia 4.

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital in New Zealand.

SPAST
Specificity
100 %
Genes
25 %
Hereditary Spastic Paraplegia 4.

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

SPAST
Specificity
100 %
Genes
25 %
Spastin (SPAST) gene sequencing test.

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

SPAST
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 %
SPG4. Complete sequencing.

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

SPAST
Specificity
100 %
Genes
25 %
SPG4. MLPA testing.

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

SPAST
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 4 (sequence analysis of SPAST gene).

By CGC Genetics in Portugal.

SPAST
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 4 via SPAST Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SPAST
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 %
Autism Spectrum Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FMR1, UBE3A, PTEN, ADSL, MFRP, NDP, MECP2, GAMT, GATM, STXBP1, MAOA, SLC9A6, SGSH, ARX, BRAF, CDKL5, CHD7, DHCR7, FOXG1, KRAS , (...)

View the complete list with 87 more genes
Specificity
1 %
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
1 %
Genes
25 %
SPAST.

By MGZ Medical Genetics Center in Germany.

SPAST
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 %
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
25 %
SPASTIC PARAPLEGIA 4.

By Centogene AG - the Rare Disease Company in Germany.

SPAST
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 SPAST.

By CeGaT GmbH in Germany.

SPAST
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 %
Spastic paraplegia, SPG4 (SPAST) sequencing.

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

SPAST
Specificity
100 %
Genes
25 %
Spastic Paraplegia 4.

By Praxis fuer Humangenetik Wien in Austria.

SPAST
Specificity
100 %
Genes
25 %
SPG4 Gene Sequencing.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia.

SPAST
Specificity
100 %
Genes
25 %
Spastic Paraplegia 4.

By MedGene in Slovakia.

SPAST
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 4: SPG4 (SPAST) gene sequence analysis.

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

SPAST
Specificity
100 %
Genes
25 %
Spastic paraplegia 4: SPG4 gene deletions/duplications (MLPA) analysis.

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

SPAST
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 %
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
2 %
Genes
25 %
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
2 %
Genes
25 %
Autism NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, TSC2 , (...)

View the complete list with 80 more genes
Specificity
1 %
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 %
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 %
SPAST.

By Fulgent Genetics Fulgent Genetics in United States.

SPAST
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 %
Paraplej���­a esp���¡stica autos���³mica dominante tipo 4.

By Bioarray in Spain.

SPAST
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 4 , Sequencing SPAST Gene.

By Reference Laboratory Genetics in Spain.

SPAST
Specificity
100 %
Genes
25 %
Familial Spastic Paraplegia Type 4, Deletions-Duplications (MLPA) SPG4 Gene.

By Reference Laboratory Genetics in Spain.

SPAST
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 %
Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes.

By Reference Laboratory Genetics in Spain.

FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, TSC2 , (...)

View the complete list with 57 more genes
Specificity
2 %
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 4: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SPAST
Specificity
100 %
Genes
25 %
Spastic Paraplegia 4: gene deletion/duplication.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SPAST
Specificity
100 %
Genes
25 %

Alternate names

Spastic Paraplegia 4, Autosomal Dominant; Spg4 Is also known as familial spastic paraplegia, autosomal dominant, 2;fsp2;spg4.


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