Spastic Paraplegia 9b, Autosomal Recessive; Spg9b

Description

Autosomal recessive SPG9B is a neurologic disorder characterized by early-onset complex spastic paraplegia. Affected individuals had delayed psychomotor development, intellectual disability, and severe motor impairment. More variable features include dysmorphic facial features, tremor, and urinary incontinence (summary by Coutelier et al., 2015).For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Spastic Paraplegia 9b, Autosomal Recessive; Spg9b

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Motor delay
  • Abnormal facial shape
  • Cataract
  • Muscle weakness
  • Spasticity
And another 34 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.


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Spastic Paraplegia 9b, Autosomal Recessive; Spg9b Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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
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 %
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
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 %
Connective Tissue Disorders Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

ATP7A, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, SMAD4, ADAMTS2, PKD2, FLNA , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, ALDH18A1, SLC39A13, COL5A1, COL5A2, PLOD1, PLP1, ADAMTS2, FLNA, ADAMTSL2, SMAD3, TGFBR1 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
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
100 %
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
100 %
Autosomal Recessive Cutis Laxa Type 3A (ARCL3A) via ALDH18A1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ALDH18A1
Specificity
100 %
Genes
100 %
Cutis laxa Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

FBLN5, ELN, PYCR1, ATP6V0A2, ALDH18A1, EFEMP2, LTBP4, ATP6V1A, ATP6V1E1
Specificity
12 %
Genes
100 %
Cutis laxa NGS panel.

By Connective Tissue Gene Tests in United States.

FBLN5, ELN, PYCR1, ATP6V0A2, ALDH18A1, EFEMP2, LTBP4, ATP6V1A, ATP6V1E1
Specificity
12 %
Genes
100 %
Cutis laxa Comprehensive panel.

By Connective Tissue Gene Tests in United States.

FBLN5, ELN, PYCR1, ATP6V0A2, ALDH18A1, EFEMP2, LTBP4, ATP6V1A, ATP6V1E1
Specificity
12 %
Genes
100 %
Progeroid syndromes and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

RECQL4, B4GALT7, PYCR1, FBN1, ALDH18A1, LMNA, BSCL2, ERCC2, ERCC3, ZMPSTE24, ERCC6, ERCC4, B3GALT6, POLD1, ERCC8, AGPAT2, WRN, PDGFRB, ERCC5, BANF1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Progeroid syndromes and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

RECQL4, B4GALT7, PYCR1, FBN1, ALDH18A1, LMNA, BSCL2, ERCC2, ERCC3, ZMPSTE24, ERCC6, ERCC4, B3GALT6, POLD1, ERCC8, AGPAT2, WRN, PDGFRB, ERCC5, BANF1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Progeroid syndromes and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

RECQL4, B4GALT7, PYCR1, FBN1, ALDH18A1, LMNA, BSCL2, ERCC2, ERCC3, ZMPSTE24, ERCC6, ERCC4, B3GALT6, POLD1, ERCC8, AGPAT2, WRN, PDGFRB, ERCC5, BANF1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 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 %
Cutis laxa panel.

By Centogene AG - the Rare Disease Company in Germany.

ATP7A, FBLN5, ELN, PYCR1, ATP6V0A2, ALDH18A1, EFEMP2, LTBP4
Specificity
13 %
Genes
100 %
Comprehensive mitochondrial disorders panel.

By Centogene AG - the Rare Disease Company in Germany.

MCCC1, MCCC2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRB, HLCS, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, STAR, MTRR , (...)

View the complete list with 160 more genes
Specificity
1 %
Genes
100 %
Cutis laxa type 3A, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

ALDH18A1
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 %
Micro syndrome panel.

By Centogene AG - the Rare Disease Company in Germany.

ALDH18A1, CREBBP, RAB3GAP1, RAB3GAP2, RAB18, TBC1D20, CUL7
Specificity
15 %
Genes
100 %
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm.

By CeGaT GmbH in Germany.

ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, COL4A1, TGFB2, SMAD3 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm.

By CeGaT GmbH in Germany.

ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, COL4A1, TGFB2, SMAD3 , (...)

View the complete list with 24 more genes
Specificity
3 %
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 %
Progeria syndromes Panel.

By CeGaT GmbH in Germany.

RECQL4, B4GALT7, PYCR1, ALDH18A1, BLM, LMNA, ERCC2, ERCC3, ZMPSTE24, ERCC6, ERCC4, POLD1, ERCC8, PTDSS1, WRN, ERCC5, GTF2H5, BANF1
Specificity
6 %
Genes
100 %
Hereditary spastic paraplegia (HSP), autosomal recessive and X-linked Panel.

By CeGaT GmbH in Germany.

ABHD12, C12orf65, ALDH18A1, SPG7, GAD1, GJC2, PLP1, ZFYVE26, SPG11, L1CAM, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2, TFG, GAN , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
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
100 %
ALDH18A1 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

ALDH18A1
Specificity
100 %
Genes
100 %
Cutis laxa gene panel.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

ATP7A, FBLN5, ELN, PYCR1, ATP6V0A2, ALDH18A1, COG7, EFEMP2, LTBP4, GORAB, TALDO1
Specificity
10 %
Genes
100 %
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
100 %
Invitae Hereditary Spastic Paraplegia Autosomal Recessive Panel.

By Invitae in United States.

C12orf65, ALDH18A1, SPG7, GJC2, SACS, ZFYVE26, SPG11, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2, NT5C2, KIF1C, B4GALNT1, GBA2, CYP2U1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Invitae Urea Cycle Disorders Panel.

By Invitae in United States.

ARG1, CPS1, SLC25A13, ALDH18A1, OTC, OAT, SLC25A15, NAGS, ASS1, ASL
Specificity
10 %
Genes
100 %
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
100 %
NGS panel - Cutis laxa.

By Genome Diagnostics VU University Medical Center in Netherlands.

ATP7A, FBLN5, ELN, PYCR1, ALDH18A1, EFEMP2, LTBP4, RIN2
Specificity
13 %
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 %
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
100 %
ALDH18A1.

By Fulgent Genetics Fulgent Genetics in United States.

ALDH18A1
Specificity
100 %
Genes
100 %
Cutis Laxa Panel.

By Blueprint Genetics in Finland.

ATP7A, FBLN5, ELN, PYCR1, ATP6V0A2, ALDH18A1, SLC2A10, EFEMP2, LTBP4, GORAB
Specificity
10 %
Genes
100 %
Progeria and Progeroid Syndromes Panel.

By Blueprint Genetics in Finland.

RECQL4, B4GALT7, COL3A1, PYCR1, ALDH18A1, BLM, LMNA, BSCL2, ERCC2, ZMPSTE24, ERCC6, GORAB, ERCC4, ERCC8, AGPAT2, WRN, ERCC5
Specificity
6 %
Genes
100 %
Aorta Panel.

By Blueprint Genetics in Finland.

FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Ehlers-Danlos Syndrome Panel.

By Blueprint Genetics in Finland.

ATP7A, B4GALT7, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, COL11A1 , (...)

View the complete list with 12 more genes
Specificity
4 %
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 %
CUTIS LAXA TYPE 1 (AUTOSOMAL RECESSIVE).

By Laboratorio de Genetica Clinica SL in Spain.

FBLN5, PYCR1, ATP6V0A2, ALDH18A1, EFEMP2, LTBP4
Specificity
17 %
Genes
100 %
CUTIS LAXA: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

ATP7A, FBLN5, ELN, PYCR1, ATP6V0A2, ALDH18A1, EFEMP2, LTBP4, RIN2
Specificity
12 %
Genes
100 %
Autosomal Dominant and Recessive Cutis Laxa , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

ATP7A, FBLN5, ELN, PYCR1, ATP6V0A2, ALDH18A1, COG7, EFEMP2, LTBP4, GORAB, RIN2, TALDO1
Specificity
9 %
Genes
100 %

Alternate names

Spastic Paraplegia 9b, Autosomal Recessive; Spg9b Is also known as ;ar-spg9b.



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