Genes associated with “progressive spasticity

173 genes foundHPO: Progressive spasticityOpen Targets: Progressive spasticity1147 ClinVar P/LP variants1 PanelApp panel
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

4 genes
22
score
ClinGen: DefinitiveP2G #2GTR ↑

Pelizeaus-Merzbacher spectrum disorder

Frequency
-
P/LP Variants
1
OT Score
-
22
score
ClinGen: DefinitiveP2G #12GTR ↑

syndromic X-linked intellectual disability Lubs type

Frequency
-
P/LP Variants
17
OT Score
-
21
score
ClinGen: DefinitiveP2G #3GTR ↑

Krabbe disease

Frequency
100%
n=30
P/LP Variants
-
OT Score
-
20
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
6
OT Score
-

Consider

90 genes
19FLNA
Def
17HPDL
Mod

Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities

16ARG1
Def#1

arginase deficiency

Neurodevelopmental disorder with progressive spasticity and brain abnormalities

14ABCD1
Def
14BCAP31
Def
14L1CAM
Def
14SLC6A8
Def
14ATP6AP1
Def

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

13IKBKG
Def

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

13NAA10
Def

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

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

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

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

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

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

NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN ABNORMALITIES; NEDPSB

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

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

13OPN1LW
Def
13OPN1MW
Def

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

13RAB39B
Def
13RPL10
Def

SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA; SPAHGC

13SPG11
Def
11CCNQ
Mod
11GDI1
Mod
11DKC1
Def
11G6PD
Def
11GAD1
Def
10BGN
Lim
10IDS
Def
10ATP13A2
Def#19
9MSL3
Def

Basilicata-Akhtar syndrome

9AFF2
Def
9FMR1
Def
9MTM1
Def

hypomyelinating leukodystrophy 4

8CLIC2
Dis
8NSDHL
Mod
8TMLHE
Dis

Possible

73 genes — click to expand
8ACP5
#4

Spondyloenchondrodysplasia with immune dysregulation

7AGXT
Def
7ATL1
Def
7KIF1A
Def
7SOX3
Mod
6CTNNB1
Def

severe intellectual disability-progressive spastic diplegia syndrome

6DEGS1
Def#9

leukodystrophy, hypomyelinating, 18

6GJC2
Def#20

hypomyelinating leukodystrophy 2

6OPA1
Def

Behr syndrome

5POLR3B
Def

Charcot-Marie-Tooth disease, demyelinating, type 1I

5ZSWIM6
Def

neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features

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