Genes associated with “hereditary spastic paraplegia”

Diagnostic yield calculator →

109 genes foundHPO: Spastic paraplegia3 PanelApp panels

Some sources returned errors (1)

openTargets: Error: OT search: 403

How are genes scored? (0–100 composite)

-5–15

ClinGen

0–15

HPO Freq

0–15

Open Targets

0–12

Phen2Gene

0–10

ClinVar

0–8

Constraint

0–8

Dosage

0–8

OMIM CS

0–8

PanelApp

0–5

OMIM

0–5

G2P

0–4

Breadth

Tiers:Strong Candidates (≥20)Consider (≥8)Possible (≥3)

Evidence dots:

HPOClinVarPhen2GeneOpen TargetsPanelApp

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Strong Candidates

44 genes

SPG11 →

score

ClinGen: DefinitivePanel: Green (3) ↑P2G #4GTR ↑

Spastic paraplegia

Frequency

P/LP Variants

OT Score

SPAST →

score

Panel: Green (3) ↑P2G #3GTR ↑

Spastic paraplegia

Frequency

P/LP Variants

OT Score

DDHD1 →

score

ClinGen: DefinitivePanel: Green (3) ↑P2G #34GTR ↑

Spastic paraplegia

Frequency

33%

n=3

P/LP Variants

OT Score

GBA2 →

score

ClinGen: DefinitivePanel: Green (3) ↑P2G #48GTR ↑

Spastic paraplegia

Frequency

100%

n=5

P/LP Variants

OT Score

NT5C2 →

score

ClinGen: DefinitivePanel: Green (3) ↑GTR ↑

Spastic paraplegia

Frequency

100%

n=9

P/LP Variants

OT Score

ENTPD1 →

score

ClinGen: DefinitivePanel: Green (3) ↑P2G #47GTR ↑

Spastic paraplegia

Frequency

100%

n=4

P/LP Variants

OT Score

FA2H →

score

ClinGen: DefinitivePanel: Green (3) ↑GTR ↑

Spastic paraplegia

Frequency

P/LP Variants

OT Score

AP5Z1 →

score

ClinGen: DefinitivePanel: Green (3) ↑GTR ↑

Spastic paraplegia

Frequency

100%

n=2

P/LP Variants

OT Score

SPG7 →

score

ClinGen: DefinitivePanel: Green (3) ↑P2G #5GTR ↑

Spastic paraplegia

Frequency

P/LP Variants

OT Score

Score

Gene

Evidence

Freq

P/LP

Description

38CYP2U1

DefP:G×3

Spastic paraplegia

CYP2U1DefP:G×3

Spastic paraplegia

38L1CAM

DefP:G×3#8

Spastic paraplegia

L1CAMDefP:G×3#8

40%

Spastic paraplegia

37ARL6IP1

DefP:G×3

Spastic paraplegia

ARL6IP1DefP:G×3

Spastic paraplegia

36MAG

DefP:G×3

MAGDefP:G×3

36B4GALNT1

DefP:G×3

Spastic paraplegia

B4GALNT1DefP:G×3

Spastic paraplegia

36PLP1

DefP:G×3#10

Spastic paraplegia

PLP1DefP:G×3#10

100%

Spastic paraplegia

34ERLIN2

DefP:G×3

Spastic paraplegia

ERLIN2DefP:G×3

Spastic paraplegia

34ALS2

DefP:G×3#11

Spastic paraplegia

ALS2DefP:G×3#11

100%

Spastic paraplegia

34WASHC5

ModP:G×3

Spastic paraplegia

WASHC5ModP:G×3

100%

Spastic paraplegia

33KIF1A

DefP:G×3

Spastic paraplegia

KIF1ADefP:G×3

Spastic paraplegia

33ATL1

DefP:G×3

Spastic paraplegia

ATL1DefP:G×3

Spastic paraplegia

32KIF5A

DefP:G×3

Spastic paraplegia

KIF5ADefP:G×3

Spastic paraplegia

30TECPR2

P:G×3

Spastic paraplegia

TECPR2P:G×3

Spastic paraplegia

29AP4B1

DefP:G×3

Spastic paraplegia

AP4B1DefP:G×3

Spastic paraplegia

28DDHD2

P:G×3

Spastic paraplegia

DDHD2P:G×3

100%

Spastic paraplegia

28ERLIN1

DefP:G×3

ERLIN1DefP:G×3

27CPT1C

LimP:G×2

Spastic paraplegia

CPT1CLimP:G×2

100%

Spastic paraplegia

27ABCD1

DefP:G×3#1

Spastic paraplegia

ABCD1DefP:G×3#1

Spastic paraplegia

27REEP1

P:G×3

Spastic paraplegia

REEP1P:G×3

Spastic paraplegia

27PNPLA6

DefP:G×3

Spastic paraplegia

PNPLA6DefP:G×3

17%

Spastic paraplegia

27BSCL2

DefP:G×3

Spastic paraplegia

BSCL2DefP:G×3

100%

Spastic paraplegia

26SLC16A2

DefP:G×3#2

Spastic paraplegia

SLC16A2DefP:G×3#2

Spastic paraplegia

26CYP7B1

DefP:G×3

Spastic paraplegia

CYP7B1DefP:G×3

Spastic paraplegia

26UCHL1

DefP:G×2

Spastic paraplegia

UCHL1DefP:G×2

Spastic paraplegia

26ZFYVE26

P:G×3

Spastic paraplegia

ZFYVE26P:G×3

Spastic paraplegia

25FARS2

DefP:G×3

Spastic paraplegia

FARS2DefP:G×3

100%

Spastic paraplegia

25AP4M1

DefP:G×3

AP4M1DefP:G×3

23KIDINS220

DefP:G×3

Spastic paraplegia

KIDINS220DefP:G×3

100%

Spastic paraplegia

22AP4E1

DefP:G×3

Spastic paraplegia

AP4E1DefP:G×3

Spastic paraplegia

22SERAC1

DefP:G×3

SERAC1DefP:G×3

22AMPD2

P:A×3

Spastic paraplegia

AMPD2P:A×3

Spastic paraplegia

22GJC2

DefP:A×3

Spastic paraplegia

GJC2DefP:A×3

100%

Spastic paraplegia

21CAPN1

P:G×3

Spastic paraplegia

CAPN1P:G×3

88%

Spastic paraplegia

21IBA57

DefP:A×3

Spastic paraplegia

IBA57DefP:A×3

Spastic paraplegia

20DSTYK

ModP:A×3

Spastic paraplegia

DSTYKModP:A×3

100%

Spastic paraplegia

Consider

40 genes

Score

Gene

Evidence

Freq

P/LP

Description

20ATP13A2

DefP:G×3

Spastic paraplegia

ATP13A2DefP:G×3

Spastic paraplegia

20C19ORF12

DefP:G×3

Spastic paraplegia

C19ORF12DefP:G×3

Spastic paraplegia

19ALDH18A1

DefP:G×3

Spastic paraplegia

ALDH18A1DefP:G×3

100%

Spastic paraplegia

19RNASEH2B

DefP:G×2

Spastic paraplegia

RNASEH2BDefP:G×2

Spastic paraplegia

18SPTAN1

DefP:G×2

Spastic paraplegia

SPTAN1DefP:G×2

75%

Spastic paraplegia

18AP4S1

DefP:G×3

Spastic paraplegia

AP4S1DefP:G×3

Spastic paraplegia

17PI4KA

P:A

Spastic paraplegia

PI4KAP:A

100%

Spastic paraplegia

17HSPD1

P:G×3

Spastic paraplegia

HSPD1P:G×3

100%

Spastic paraplegia

17SPART

DefP:G×3

Spastic paraplegia

SPARTDefP:G×3

100%

Spastic paraplegia

17REEP2

P:G×3

Spastic paraplegia

REEP2P:G×3

Spastic paraplegia

17SLC2A1

DefP:G×2#13

Spastic paraplegia

SLC2A1DefP:G×2#13

Spastic paraplegia

17KDM5C

DefP:G×3

Progressive spastic paraplegia

KDM5CDefP:G×3

Progressive spastic paraplegia

17SLC25A15

DefP:G×2

Spastic paraplegia

SLC25A15DefP:G×2

100%

Spastic paraplegia

16GBE1

DefP:G

Spastic paraplegia

GBE1DefP:G

100%

Spastic paraplegia

16TUBB4A

DefP:G×3

TUBB4ADefP:G×3

16WDR45B

P:G×3

Spastic paraplegia

WDR45BP:G×3

100%

Spastic paraplegia

16VPS37A

LimP:A×3

Spastic paraplegia

VPS37ALimP:A×3

Spastic paraplegia

13HSNSP

NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE; HSNSP

HSNSP

NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE; HSNSP

13SPEMR

SPASTIC PARAPLEGIA, EPILEPSY, AND IMPAIRED INTELLECTUAL DEVELOPMENT; SPEMR

SPEMR

SPASTIC PARAPLEGIA, EPILEPSY, AND IMPAIRED INTELLECTUAL DEVELOPMENT; SPEMR

13SPG16

Spastic paraplegia 16, X-linked, complicated

SPG16

Spastic paraplegia 16, X-linked, complicated

13SPG34

Spastic paraplegia 34, X-linked

SPG34

Spastic paraplegia 34, X-linked

13SPG3A

SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A

SPG3A

SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A

13SPG4

SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4

SPG4

SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4

12HPDL

ModP:G

Spastic paraplegia

HPDLModP:G

100%

Spastic paraplegia

12CCT5

P:R×3

Spastic paraplegia

CCT5P:R×3

Spastic paraplegia

12NIPA1

P:G×3

Spastic paraplegia

NIPA1P:G×3

Spastic paraplegia

12SPG21

P:G×3

Spastic paraplegia

SPG21P:G×3

Spastic paraplegia

12SLC33A1

P:A×3#14

Spastic paraplegia

SLC33A1P:A×3#14

Spastic paraplegia

12RTN2

P:G×3

Spastic paraplegia

RTN2P:G×3

Spastic paraplegia

12UBAP1

P:G×3

Spastic paraplegia

UBAP1P:G×3

Spastic paraplegia

11ABHD16A

P:G×2

Spastic paraplegia

ABHD16AP:G×2

100%

Spastic paraplegia

11PAX3

Def#9

Spastic paraplegia

PAX3Def#9

Spastic paraplegia

11VAMP1

P:A×3

Spastic paraplegia

VAMP1P:A×3

Spastic paraplegia

11GAN

Def#6

Spastic paraplegia

GANDef#6

Spastic paraplegia

11FLVCR1

DefP:G

Spastic paraplegia

FLVCR1DefP:G

100%

Spastic paraplegia

11PDHX

Def#7

Spastic paraplegia

PDHXDef#7

Spastic paraplegia

10RAB9B

RAB9B

9NFU1

DefP:A

Spastic paraplegia

NFU1DefP:A

100%

Spastic paraplegia

9HNRNPUL2-BSCL2

HNRNPUL2-BSCL2

8ELOVL1

P:G

Spastic paraplegia

ELOVL1P:G

100%

Spastic paraplegia

Possible

19 genes — click to expand

Score

Gene

Evidence

Freq

P/LP

Description

8STXBP1

Def

Spastic paraplegia

STXBP1Def

Spastic paraplegia

7MECP2

Def

Spastic paraplegia

MECP2Def

100%

Spastic paraplegia

7PEX3

Def

Spastic paraplegia

PEX3Def

100%

Spastic paraplegia

7CNNM2

Def

CNNM2Def

7RPS6KC1

P:A

Spastic paraplegia

RPS6KC1P:A

45%

Spastic paraplegia

P:G

Spastic paraplegia

RNF170P:G

Spastic paraplegia

5MTRFR

Def

Spastic paraplegia

MTRFRDef

100%

Spastic paraplegia

5KLC2

P:R

Spastic paraplegia

KLC2P:R

Spastic paraplegia

5RNF220

Spastic paraplegia

RNF220

100%

Spastic paraplegia

5SPG10

SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10

SPG10

SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10

5SPG5A

SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A

SPG5A

SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A

5SPG6

SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT; SPG6

SPG6

SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT; SPG6

5LAMB1

Mod

Spastic paraplegia

LAMB1Mod

Spastic paraplegia