Genes associated with “spasticity”

Diagnostic yield calculator →
284 genes foundHPO: Spasticity
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
hover for details

Strong Candidates

23 genes
1
32
score
ClinGen: DefinitiveP2G #7GTR ↑

Spastic paraplegia

Frequency
-
P/LP Variants
12
OT Score
-
2
28
score
ClinGen: DefinitiveGTR ↑

Spastic paraplegia

Frequency
-
P/LP Variants
5
OT Score
-
3
26
score
ClinGen: DefinitiveP2G #8GTR ↑

Spasticity

Frequency
-
P/LP Variants
10
OT Score
-
4
26
score
ClinGen: DefinitiveGTR ↑

Progressive spasticity

Frequency
25%
n=4
P/LP Variants
5
OT Score
-
5
24
score
ClinGen: DefinitiveP2G #6GTR ↑

Progressive spastic quadriplegia

Frequency
-
P/LP Variants
2
OT Score
-
6
24
score
ClinGen: DefinitiveP2G #35GTR ↑

Spastic tetraplegia

Frequency
100%
n=1
P/LP Variants
3
OT Score
-
7
24
score
ClinGen: DefinitiveP2G #12GTR ↑
Frequency
-
P/LP Variants
9
OT Score
-
8
23
score
ClinGen: DefinitiveGTR ↑

Spasticity

Frequency
100%
n=2
P/LP Variants
7
OT Score
-
9
23
score
ClinGen: DefinitiveGTR ↑

Lower limb spasticity

Frequency
100%
n=3
P/LP Variants
4
OT Score
-
23PSAP
Def

Spastic tetraparesis

23ARSA
Def#18
23FA2H
Def#14

Spastic paraplegia

22GALC
Def#20
22SLC25A15
Def

Spastic paraplegia

21CASK
Def

Spasticity

21ALS2
Def

Spasticity

21DLD
Def
21L1CAM
Def

Spasticity

20GFAP
Def
20EIF2B5
Def
20ARG1
Def#1
20TNR
Def
20TRAPPC4
Def

Spastic tetraparesis

Consider

79 genes
20GLB1
Def
20SPG11
Def
19SPAST
18RAB3GAP1
Def
18EIF2B4
Def

Spasticity

17AFG3L2
Def

Spastic paraparesis

17RAB3GAP2
Def
17POLR3A
Def

Spasticity

17PAFAH1B1
#17

Spastic tetraparesis

16EIF2B1
Def
16AP4M1
Def

Spastic tetraplegia

16HEXB
Def

Spasticity

15EZH2
Def#5

Spasticity

15ASXL3
Def
15CNOT1
Def
15DDX3X
Def
15FOXG1
Def
15GRIN2B
Def
15SCO2
Def
15ALDH18A1
Def

Spasticity

14EIF2B3
Def
14MLC1
Def

Spasticity

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

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

13IRF2BPL
Def
13LEMSPAD

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

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

13NEDCHS

NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS

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

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

13WDR62
Def
12WASHC5
Mod

Lower limb spasticity

12KMT2B
Def
12RAB18
Mod

Lower limb spasticity

12AMACR
Def
11POLR1C
Def

Spasticity

11DARS2
Def

Spasticity

11NARS1
Mod
11CSF1R
Def
11SYNE1
Def
11CTSD
Def

Spasticity

11FTL
Def

Spasticity

11CLPB
Lim

Opisthotonus

11ERCC2
Def

Spasticity

11POLR3B
Def

Spasticity

11ATP13A2
Def

Spastic tetraplegia

10TBC1D20
10ATL1
Def

Lower limb spasticity

10HTRA1

Spasticity

10UCHL1
Def

Lower limb spasticity

10PLCB1
Def

Spasticity

10MCOLN1
Def

Spastic tetraplegia

10PI4KA
10GAN
Def

Spastic paraplegia

10ANK3
Mod

Spasticity

9PLA2G6
Def

Spasticity

9AP4B1
Def
9EPM2A
Def
9EIPR1
9SLC25A12
Mod

Spasticity

9EDNRB
Mod

Spastic paraparesis

9SETBP1
Def
9UBAP1

Lower limb spasticity

9TUBB4A
Def

Spasticity

8COQ4
Def

Lower limb spasticity

8WWOX
Def

Spasticity

8HECTD4
8KIF5A
Def

Spastic paraplegia

8TRAPPC12

Possible

125 genes — click to expand
8CACNA1E
Def

Spastic tetraplegia

8DEGS1
Def

Spastic tetraplegia

8KIF1A
Def

Spastic paraplegia

8ATP6V1A
Lim

Spastic tetraparesis

8DNMT1
Def

Spasticity

8UBA5
Def

Spasticity

8AIMP1
Def

Spastic paraparesis

8SDHAF1
Def

Spastic tetraplegia

7ZFYVE26

Spastic paraplegia

7ISCA2
Def

Spasticity

7ATXN1

Spasticity

7ALDH7A1
Def
7BSCL2
Def
7FARS2
Def
7GBE1
Def
7GJC2
Def
7NHLRC1
Def
7SERAC1
Def
7TUBGCP6
Def
7TYMP
Def
7ATP6AP2
Def

Spasticity

7SMC1A
Def

Spastic tetraparesis

6CHMP1A

Spasticity

6SPTLC1
Def

Lower limb spasticity

6MED23
Mod
6SBF1
Mod
6KIDINS220
Def

Spastic paraplegia

6RETREG1
Def

Scissor gait

6AGTPBP1
Def

Spasticity

6SATB1
Def

Spasticity

6SLC39A14

Opisthotonus

6GAD1
Def

Spasticity

5AP5Z1
Def

Spastic paraplegia

5ARL6IP1
Def

Spasticity

5MTRFR
Def

Spastic paraplegia

5NDE1
Def

Spastic tetraplegia

5NDUFAF5
Def

Spasticity

5NOTCH3
Def

Appendicular spasticity

5PIGA
Def

Spastic tetraplegia

5SLC1A4
Def

Spasticity

5RNF170

Lower limb 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

5NEDSPLB

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

5PNSED

PERIPHERAL NEUROPATHY WITH VARIABLE SPASTICITY, EXERCISE INTOLERANCE, AND DEVELOPMENTAL DELAY; PNSED

5NEXMIF
Def

Lower limb spasticity

5SIX6

Spastic diplegia

5ITPR1
Def

Opisthotonus

5MCEE
Def

Spasticity

5NFU1
Def

Spastic tetraparesis

5OPA1
Def

Lower limb spasticity

5RFXANK
Def

Lower limb spasticity

5SOD1
Def

Spastic tetraparesis

5TCTN2
Def

Spasticity

5UNC13A
Def

Spastic hemiparesis

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

4CNTNAP2
Def

Spasticity

4GMPPA
Def

Spasticity

4ADM2
4BCAS3
4C1QTNF3-AMACR
4CDK19
4CHKB-CPT1B
4CHKB-DT
4CIMAP1B
4CPT1B
No
4DCLRE1B
4DENND6B
4EEFSEC
4EPM2A-DT
4GRAMD2B
4HDAC10
4HNRNPUL2-BSCL2
4KLHDC7B
4KLHDC7B-DT
4LMF2
4LMNB1-DT
4MAPK11
4MAPK12
4MAPK8IP2
4NCAPH2
4PGAP1
4PLXNB2
4PPP6R2
4RAB9B
4RECQL
Dis
4SELENOO
4SPMIP10
4SYCE3
4TMPPE
4DDHD1
Def

Spastic paraplegia

4MED17

Spasticity

4IFIH1
Def

Lower limb spasticity

4GLYCTK
Mod

Appendicular spasticity

4TPK1
Mod

Spasticity

3BCL11B
Def

Spasticity

3KCNC3
Def

Spasticity

3KCNA4

Spastic gait

3SELENOI

Lower limb spasticity

3SPTBN1
Def

Spastic diplegia

3EXOSC5

Spasticity

3ADAM22
Def

Spasticity

3BOLA3
Def

Spasticity

3CYB5R3
Def

Opisthotonus

3EMILIN1
Def

Spasticity

3ERCC5
Def

Spasticity

3ERLIN2
Def

Upper limb spasticity

3GBA1
Def

Spastic paraparesis

3L2HGDH
Def

Spastic tetraparesis

3MFN2
Def

Spasticity

3PEX16
Def

Spastic paraparesis

3SPART
Def

Spastic paraparesis

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.