Genes associated with “spasticity”

285 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
hover for details

Strong Candidates

21 genes
1
ABCD1 →

ATP binding cassette subfamily D member 1

41
score
ClinGen: DefinitiveP2G #7GTR ↑
Frequency
-
P/LP Variants
16
OT Score
0.61
2
L1CAM →

L1 cell adhesion molecule

36
score
ClinGen: DefinitiveGTR ↑

Spastic paraplegia

Frequency
40%
n=5
P/LP Variants
3
OT Score
0.56
3
SPAST →

spastin

34
score
GTR ↑
Frequency
-
P/LP Variants
10
OT Score
0.65
4
FA2H →

fatty acid 2-hydroxylase

32
score
ClinGen: DefinitiveP2G #14GTR ↑

Spastic tetraparesis

Frequency
-
P/LP Variants
2
OT Score
0.64
5
SLC2A1 →

solute carrier family 2 member 1

30
score
ClinGen: DefinitiveGTR ↑

Spastic paraplegia

Frequency
-
P/LP Variants
1
OT Score
0.46
6
SPG11 →

SPG11 vesicle trafficking associated, spatacsin

29
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
12
OT Score
0.55
7
28
score
ClinGen: DefinitiveP2G #6GTR ↑

Lower limb spasticity

Frequency
-
P/LP Variants
5
OT Score
-
8
SPG7 →

SPG7 matrix AAA peptidase subunit, paraplegin

28
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
3
OT Score
0.58
9
B4GALNT1 →

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

27
score
ClinGen: DefinitiveGTR ↑

Lower limb spasticity

Frequency
100%
n=18
P/LP Variants
2
OT Score
0.55
25CYP27A1
Def#8
24SLC16A2
Def#11

solute carrier family 16 member 2

24SLC17A5
Def#12
23MED27
Def

mediator complex subunit 27

23ARG1
Def#1

Spastic gait

23ARSA
Def#18
22GALC
Def#20
22AP4M1
Def

adaptor related protein complex 4 subunit mu 1

21DLD
Def
20SLC25A15
Def

Spastic diplegia

20TNR
Def

Spasticity

20EIF2B5
Def

Consider

101 genes
20GLB1
Def
19ATP13A2
Def

Spastic paraplegia

18RAB3GAP2
Def
18PSAP
Def
18HPRT1
Def#3

Spasticity

18ALS2
Def

Spastic diplegia

18EIF2B4
Def

Spasticity

17EIF2B1
Def

Spasticity

17CYP2U1
Def

cytochrome P450 family 2 subfamily U member 1

16GJC2
Def

gap junction protein gamma 2

16MECP2
Def

Spastic paraplegia

16GBA2
Def

Upper limb spasticity

16GRIN2B
Def

Spasticity

16ZFYVE26

Lower limb spasticity

16AFG3L2
Def

Spasticity

16POLR3B
Def

Spastic gait

15MARS2
Def

Spasticity

15RAB3GAP1
Def
15FARS2
Def

Spastic paraplegia

15KIF1A
Def

kinesin family member 1A

15CASK
Def
15CNOT1
Def
15DDX3X
Def
15UCHL1
Def

Lower limb spasticity

15GJA1
Lim

gap junction protein alpha 1

15GCH1
Def

Spasticity

14AP4B1
Def

adaptor related protein complex 4 subunit beta 1

14GFAP
Def
14KDM5C
Def

Progressive spastic paraplegia

14EIF2B3
Def
14GRIN1
Def

Spasticity

14CTNNB1
Def
14PNPLA6
Def

Spasticity

13ALDH18A1
Def

Lower limb spasticity

13PLA2G6
Def

Spastic tetraplegia

13ASPM
Def
13ASS1
Def
13ETHE1
Def
13HEXA
Def
13HEXB
Def
13IKSHD

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

13LEMSPAD

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

13MLC1
Def
13NDMSBA

NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES; NDMSBA

13NEDBASS

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

13NEDCASB

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

13NEDHLS

NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS

13NEDSCAC

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

13NEDSG

NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH; NEDSG

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

13PEBAS

ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY; PEBAS

13SYNE1
Def
13TTR
DefSF

Spastic paraparesis

13NSRP1
Mod

nuclear speckle splicing regulatory protein 1

13SLC19A3
Def

Opisthotonus

13ACP5

Spasticity

12SLC33A1

solute carrier family 33 member 1

12HACE1

HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1

12NDUFS4
Def

Spasticity

12AP4S1
Def

Spastic paraplegia

12POLR3A
Def
11LIG3
Def

DNA ligase 3

11TECPR2

Spastic paraplegia

11CYP7B1
Def

cytochrome P450 family 7 subfamily B member 1

11KIF5A
Def

kinesin family member 5A

11FOXG1
Def
11FBXO7

Lower limb spasticity

11AP4E1
Def

adaptor related protein complex 4 subunit epsilon 1

11ERLIN2
Def

ER lipid raft associated 2

11MTRFR
Def

mitochondrial translation release factor in rescue

11GABBR2
Mod

gamma-aminobutyric acid type B receptor subunit 2

11TUBB4A
Def
11WDR62
Def
11SYNJ1
Def

Spastic tetraplegia

11SNAP25
Def

synaptosome associated protein 25

11FTL
Def

Spasticity

11GCDH
Def

Spastic diplegia

11PAX3
Def

Spastic paraplegia

11CSF1R
Def

Spasticity

10BCOR
Def

Spastic paraparesis

10NARS1
Mod
10GAN
Def

Spastic paraplegia

10LYST
Def

lysosomal trafficking regulator

10RTN2

reticulon 2

10RARS2
Def

Lower limb spasticity

9ARF1
Def

Spasticity

9BRAT1
Def
9EPG5
Def
9WASHC5
Mod

Upper limb spasticity

9RAB9B
9GABBR1

gamma-aminobutyric acid type B receptor subunit 1

9CLPB
Lim
9FGFR1
Def
9VAMP1

Spastic paraplegia

9PQBP1
Def

Spasticity

9PSMD6
9ABHD16A

abhydrolase domain containing 16A, phospholipase

8NT5C2
Def

Spastic paraplegia

Possible

118 genes — click to expand
8MCM7

minichromosome maintenance complex component 7

8ADRA2B
Ref

adrenoceptor alpha 2B

8ADRA2A

adrenoceptor alpha 2A

8ADRA2C

adrenoceptor alpha 2C

8PPM1N

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

8CREB3

cAMP responsive element binding protein 3

8ATP6V1A
Lim

Spastic tetraparesis

8SPTAN1
Def

Spasticity

8PCYT2

phosphate cytidylyltransferase 2, ethanolamine

8TBCD
Def

Lower limb spasticity

7YIF1B
Def

Spasticity

7DARS2
Def
7GAD1
Def
7GBE1
Def
7IRF2BPL
Def
7KCTD7
Def
7NHLRC1
Def
7SERAC1
Def
7HTR2A

5-hydroxytryptamine receptor 2A

7HTR2C

5-hydroxytryptamine receptor 2C

7AFG2B
Lim

Spasticity

7ATXN8OS

Spasticity

6REEP2

Spastic gait

6TMPPE
6TBCE
Mod

Spasticity

6ANK3
Mod
6MED23
Mod
6AARS1
Def

Spasticity

6MAG
Def

Spastic paraparesis

6SPOUT1

Spasticity

6BCAS3

Spasticity

6NUP62
Dis

Spasticity

5FRRS1L
Def

Spasticity

5SPART
Def

Spastic gait

5TREX1
Def

Spasticity

5TRMT5
Def

Spasticity

5HSPD1

Progressive spasticity

5VPS53

Opisthotonus

5HIKESHI
Def

Lower limb spasticity

5ADAMTS9
Lim
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

5NEDSPLB

NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, HYPOMYELINATING LEUKODYSTROPHY, AND BRAIN ABNORMALITIES; NEDSPLB

5PRICKLE2
Lim
5SCN2A
Def

Spastic tetraplegia

5STXBP1
Def

Spastic paraplegia

5ZC4H2
Def

Spasticity

5DYNC1H1
Def

Spastic tetraplegia

5EIF2S3
Def

Spasticity

5ATP6AP2
Def

Spasticity

5BCL11B
Def

Spastic tetraplegia

5FDXR
Def

Appendicular spasticity

5FLVCR1
Def

Spastic paraplegia

5KCNC2
Def

Spastic tetraplegia

5MCEE
Def

Spasticity

5MED12
Def

Spasticity

5NFU1
Def

Progressive spastic paraplegia

5NUBPL
Def

Spasticity

5PEX16
Def

Spasticity

5PLCB4
Def

Opisthotonus

5PNPLA8
Def

Spasticity

5RETREG1
Def

Spasticity

5TUBA4A
Mod

Spasticity

5CDC40

Spastic tetraplegia

5TMEM63C

Spastic gait

4AARS2
Def

Spasticity

4PIGA
Def

Spasticity

4WWOX
Def

Lower limb spasticity

4DNM1
Def

Opisthotonus

4ALDH3A2

Spastic paraparesis

4TUBB3
Def

Spasticity

4AUH
Def

Spasticity

4ATXN7
4CADPS
4CDK19
4CEP15
4FEZF2
4HECTD4
4KBTBD8
4LRIG1
4MAGI1
4PI4KA
4PTPRG
4SETD6
4SUCLG2
4SYNPR
4TAFA1
4TAFA4
4THOC7
4YWHAE
4GTPBP2
Def

Spasticity

4MTR
Def

Spasticity

4EEFSEC

Lower limb spasticity

4PGBD5

Lower limb spasticity

4GLYCTK
Mod

Spastic tetraplegia

4NAXD
Def

Spastic tetraplegia

4PPP3CA
Def

Spasticity

4SATB1
Def

Upper limb spasticity

4ITPR1
Def

Spasticity

3POU3F3
Def

Opisthotonus

3ACBD6

Upper limb spasticity

3COLGALT1
Mod

Spastic tetraplegia

3PANK2

Spasticity

3ACTB
Def

Lower limb spasticity

3AP5Z1
Def

Lower limb spasticity

3BSCL2
Def

Lower limb spasticity

3C19ORF12
Def

Spastic paraplegia

3CLCN4
Def

Lower limb spasticity

3HEPACAM
Def

Spasticity

3HSD17B4
Def

Spastic diplegia

3MCCC1
Def

Opisthotonus

3MFN2
Def

Spasticity

3MOCS1
Def

Opisthotonus

3NAA10
Def

Spastic diplegia

3NACC1
Def

Spasticity

3SNX14
Def

Spasticity

3TIMM50
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.