Genes associated with “spasticity”

Diagnostic yield calculator →
272 genes foundHPO: SpasticityOpen Targets: Spasticity
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

23 genes
1
ABCD1 →

ATP binding cassette subfamily D member 1

42
score
ClinGen: DefinitiveP2G #7GTR ↑

Spastic paraplegia

Frequency
-
P/LP Variants
18
OT Score
0.59
2
L1CAM →

L1 cell adhesion molecule

36
score
ClinGen: DefinitiveGTR ↑

Spasticity

Frequency
-
P/LP Variants
9
OT Score
0.57
3
UCHL1 →

ubiquitin C-terminal hydrolase L1

34
score
ClinGen: DefinitiveGTR ↑

Lower limb spasticity

Frequency
77%
n=31
P/LP Variants
7
OT Score
0.50
4
SPAST →

spastin

32
score
GTR ↑
Frequency
-
P/LP Variants
3
OT Score
0.65
5
MED27 →

mediator complex subunit 27

28
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
1
OT Score
0.53
6
GAD1 →

glutamate decarboxylase 1

27
score
ClinGen: DefinitiveGTR ↑

Spasticity

Frequency
45%
n=11
P/LP Variants
8
OT Score
0.63
7
26
score
ClinGen: DefinitiveP2G #1GTR ↑
Frequency
-
P/LP Variants
11
OT Score
-
8
26
score
ClinGen: DefinitiveP2G #8GTR ↑

Spasticity

Frequency
-
P/LP Variants
18
OT Score
-
9
SPG11 →

SPG11 vesicle trafficking associated, spatacsin

25
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
2
OT Score
0.55
24AP4M1
Def

Spastic tetraplegia

24FA2H
Def#14

Spastic paraplegia

24RAB3GAP2
Def

Spastic diplegia

24SLC16A2
Def#11

solute carrier family 16 member 2

24SLC17A5
Def#12
23ARSA
Def#18
22PLP1
Def#6

Progressive spastic quadriplegia

22ZFYVE26

Spastic paraplegia

21DLD
Def
21SLC2A1
Def

Spastic paraplegia

20ATP13A2
Def

Spastic tetraplegia

20MECP2
Def

Spastic tetraplegia

20TNR
Def

Opisthotonus

20TRAPPC4
Def

Spastic tetraparesis

Consider

95 genes
20GLB1
Def
20SPG7
Def

Spastic paraplegia

20MTRFR
Def

Spastic paraplegia

19AFG3L2
Def

Spastic paraparesis

19RAB3GAP1
Def
18CTNNB1
Def

Progressive spasticity

18AP4E1
Def

adaptor related protein complex 4 subunit epsilon 1

17CYP2U1
Def

cytochrome P450 family 2 subfamily U member 1

17ATXN3

Spasticity

16POLR1C
Def

Spasticity

16KIF1A
Def

Lower limb spasticity

16POLR3A
Def
16DHCR24
Def

Spasticity

16AP4B1
Def

Spastic paraplegia

16POLR3B
Def

Spasticity

16HEXB
Def

Spasticity

15EZH2
Def#5

Spasticity

15GJA1
Lim

gap junction protein alpha 1

14SLC25A15
Def
14EIF2B3
Def
14HPDL
Mod

4-hydroxyphenylpyruvate dioxygenase like

14CASK
Def

Spasticity

13KDM5C
Def

lysine demethylase 5C

13CYP7B1
Def

Upper limb spasticity

13ASS1
Def
13HEXA
Def
13IKSHD

ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES; IKSHD

13LEMSPAD

LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD

13MLC1
Def
13NEDBASS

NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS

13NEDCASB

NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB

13NEDCHS

NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS

13NEDESBA

NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA

13NEDHLS

NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS

13NEDIHSS

NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY; NEDIHSS

13NEDMCMS

NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS

13NEDSCAC

NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR ATROPHY; NEDSCAC

13NEDSSBA

NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES; NEDSSBA

13NEDSSCC

NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM; NEDSSCC

13NEDSTO

NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO

13NEDSWMA

NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA

13WDR62
Def
13GCH1
Def

GTP cyclohydrolase 1

13EIF2B4
Def

Spasticity

13AP4S1
Def

adaptor related protein complex 4 subunit sigma 1

12SLC33A1

solute carrier family 33 member 1

12ALS2
Def

Spasticity

12SYNE1
Def
12RAB18
Mod

Lower limb spasticity

12ERLIN2
Def

Lower limb spasticity

12PNPLA6
Def

Spasticity

12MED23
Mod
12SPART
Def

Spastic paraparesis

12PAFAH1B1
#17

Spastic tetraparesis

12AMACR
Def
12ADD3
Mod

Spastic tetraplegia

11KIF5A
Def

kinesin family member 5A

11ASXL3
Def
11CNOT1
Def
11B4GALNT1
Def

beta-1,4-N-acetyl-galactosaminyltransferase 1

11GBA2
Def

glucosylceramidase beta 2

11GJC2
Def

gap junction protein gamma 2

11LIG3
Def

DNA ligase 3

11SNAP25
Def

synaptosome associated protein 25

11RTN2

Upper limb spasticity

11GABBR2
Mod

gamma-aminobutyric acid type B receptor subunit 2

11ASPM
Def
11BRAT1
Def
11GBE1
Def
11CTSD
Def

Spasticity

11FTL
Def

Spasticity

11ERCC2
Def

Spasticity

11SPTAN1
Def

Spastic tetraplegia

10PLCB1
Def

Spasticity

10MCOLN1
Def

Spastic tetraplegia

10TECPR2

tectonin beta-propeller repeat containing 2

10GRIN2B
Def

Spasticity

10GAN
Def

Spastic paraplegia

9PLA2G6
Def

Spasticity

9KCTD7
Def
9EDNRB
Mod

Spastic paraparesis

9GABBR1

gamma-aminobutyric acid type B receptor subunit 1

9FGFR1
Def
9SETBP1
Def
9DARS2
Def

Spasticity

9VAMP1

Spastic paraplegia

9TUBB4A
Def

Spasticity

9ABHD16A

abhydrolase domain containing 16A, phospholipase

9TPK1
Mod

Spasticity

8COQ4
Def

Lower limb spasticity

8PSAP
Def

Spastic tetraparesis

8ADRA2A

adrenoceptor alpha 2A

8ADRA2B
Ref

adrenoceptor alpha 2B

8ADRA2C

adrenoceptor alpha 2C

8WWOX
Def

Spasticity

Possible

100 genes — click to expand
8MCM7

minichromosome maintenance complex component 7

8CACNA1E
Def

Spastic tetraplegia

8PPM1N

protein phosphatase, Mg2+/Mn2+ dependent 1N (putative)

8CREB3

cAMP responsive element binding protein 3

8ATP6V1A
Lim

Spastic tetraparesis

8DNMT1
Def

Spasticity

8PCYT2

phosphate cytidylyltransferase 2, ethanolamine

8UBA5
Def

Spasticity

8AIMP1
Def

Spastic paraparesis

8SDHAF1
Def

Spastic tetraplegia

7KANK1

KN motif and ankyrin repeat domains 1

7WASHC5
Mod

Lower limb spasticity

7HACE1

HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1

7ALDH18A1
Def

Spastic paraplegia

7ISCA2
Def

Spasticity

7ATXN1

Spasticity

7FXN
Def
7HEPACAM
Def
7IRF2BPL
Def
7SERAC1
Def
7ATP6AP2
Def

Spasticity

7SMC1A
Def

Spastic tetraparesis

7ATXN8OS

Spasticity

6CHMP1A

Spasticity

6PI4KA
6SPTLC1
Def

Lower limb spasticity

6NARS1
Mod
6KIDINS220
Def

Spastic paraplegia

6RETREG1
Def

Scissor gait

6SATB1
Def

Spasticity

6CTCF
Def

Spastic gait

5AP5Z1
Def

Spastic paraplegia

5ARL6IP1
Def

Spasticity

5GRIN1
Def

Spasticity

5NDE1
Def

Spastic tetraplegia

5NDUFAF5
Def

Spasticity

5NOTCH3
Def

Appendicular spasticity

5PIGA
Def

Spastic tetraplegia

5SLC1A4
Def

Spasticity

5HTRA1

Spasticity

5RNF220

Spastic paraplegia

5HIKESHI
Def

Spasticity

5HMNR11

NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 11, WITH SPASTICITY; HMNR11

5NEDDSBA

NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FEATURES, SPASTICITY, AND BRAIN ABNORMALITIES; NEDDSBA

5NEDMISBA

NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN IMAGING ABNORMALITIES; NEDMISBA

5ANK3
Mod

Spasticity

5NEXMIF
Def

Lower limb spasticity

5SIX6

Spastic diplegia

5DST
Def

Spasticity

5ITPR1
Def

Opisthotonus

5MCEE
Def

Spasticity

5NFU1
Def

Opisthotonus

5NT5C2
Def

Spastic gait

5OPA1
Def

Lower limb spasticity

5RFXANK
Def

Lower limb spasticity

5SOD1
Def

Spastic tetraparesis

5TCTN2
Def

Spasticity

5TUBA4A
Mod

Spasticity

5ABHD12
Def

Spasticity

5TMEM63C

Lower limb spasticity

4HIVEP2

Spasticity

4KLHL20
Mod

Appendicular spasticity

4CAPN1

Spastic paraplegia

4ERCC6
Def

Scissor gait

4MICOS13
Def

Spasticity

4AUH
Def

Spasticity

4GMPPA
Def

Spasticity

4C1QTNF3-AMACR
4CYFIP1
4EXOSC3
4GOLGA6L1
4HECTD4
4NIPA1
4NIPA2
4RAB9B
4TMPPE
4TUBGCP5
4DDHD1
Def

Spastic paraplegia

4OTUD6B
Def

Spastic tetraplegia

4RTTN
Def

Spasticity

4IFIH1
Def

Lower limb spasticity

4GLYCTK
Mod

Appendicular spasticity

4RERE
Def

Spastic tetraparesis

3BCL11B
Def

Spasticity

3KCNC3
Def

Spasticity

3CCT5

Spastic gait

3KCNA4

Spastic gait

3SELENOI

Lower limb spasticity

3SPTBN1
Def

Spastic diplegia

3EXOSC5

Spasticity

3ADAM22
Def

Spasticity

3ATL1
Def

Lower limb spasticity

3BOLA3
Def

Spasticity

3CYB5R3
Def

Opisthotonus

3ERCC5
Def

Spasticity

3GBA1
Def

Spastic paraparesis

3L2HGDH
Def

Spastic tetraparesis

3MFN2
Def

Spasticity

3TARDBP
Def

Spasticity

3VPS11
Def

Spasticity

Related phenotype searches

Intellectual disabilityGlobal developmental delaySpeech/language delayNeurodegenerationDevelopmental regressionSeizuresEpileptic encephalopathyStatus epilepticus

Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.