Table 2.
Recurrent CP genes and copy number variants.
| Gene/region | # of patients | Associated OMIM disorder | Primary movement type | Citations |
|---|---|---|---|---|
| AGAP1 | 3 | – | Spastic dystonic | van Eyk et al. (35), McMichael et al. (10, 12) |
| AMPD2 | 2 | Spastic paraplegia 63 | Spastic | Takezawa et al. (20), Jin et al. (21) |
| AP4M1 | 8 | Spastic paraplegia 50 | Spastic-dystonic diplegia | Jin et al. (21), Jameel et al. (39), Verkerk et al. (40) |
| ATL1 | 5 | Spastic paraplegia 3 | Mostly spastic | Zouvelou et al. (41), Jin et al. (21) |
| CACNA1A | 2 | Episodic ataxia, type 2 | Ataxic | Zouvelou et al. (41), Takezawa et al. (20) |
| COL4A1 | 2 | Hemorrhage, intracerebral, susceptibility to | Spastic-dystonic w/generalized hypotonia, myoclonic jerks; ataxia | van Eyk et al. (35) |
| CTNNB1 | 5 | Neurodevelopmental disorder with spastic diplegia and visual defects | Mostly spastic | Jin et al. (21), Cordeiro et al. (42) |
| FBXO31 | 2 | Mental retardation, autosomal recessive 45 | Spastic | Jin et al. (21) |
| ITPR1 | 2 | Spinocerebellar ataxia 29, congenital non-progressive | Ataxic | Schnekenberg et al. (19) |
| KDM7A | 2 | – | Spastic dystonic | van Eyk et al. (35) |
| KIF1A | 2 | Spastic paraplegia 30 | Spastic dystonic | van Eyk et al. (35) |
| MAOB | 3 | – | Spastic | van Eyk et al. (35) |
| NT5C2 | 3 | Spastic paraplegia 45 | Spastic diplegia | van Eyk et al. (35), Jin et al. (21), Naseer et al. (43) |
| RHOB | 2 | – | Spastic dystonic | Jin et al. (21) |
| SCN2A | 2 | Episodic ataxia, type 9 | Spastic, ataxia, hyperkinesia | Cordeiro et al. (42), Takezawa et al. (20) |
| SPAST | 7 | Spastic paraplegia 4 | mostly spastic | Takezawa et al. (20), Jin et al. (21), Zouvelou et al. (41) |
| STXBP1 | 3 | Epileptic encephalopathy, early infantile, 4 | Ataxic | Cordeiro et al. (42), Takezawa et al. (20) |
| TUBA1A | 3 | Lissencephaly 3 | Spastic | Jin et al. (21) |
| dup Xp22.33 | 2 | – | Hemiplegic | Zarrei et al. (15) |
| Del Xp22.33 | 2 | – | Spastic, choreoathetotic | Oskoui et al. (11, 14), Corbett et al. (16) |
| Dup 2p25.3 (MYT1L) | 2 | MRD39 | Spastic, choreoathetotic | Oskoui et al. (11, 14) |
| del 9p24.3 (KANK1) | 2 | Cerebral palsy, spastic quadriplegic, 2 | Spastic | Oskoui et al. (11, 14), Segel et al. (13) |
| del 22q11.21 | 2 | 22q11.2 deletion syndrome |
Variants curated from literature of cohort-based WES and filtered to only include genes with at least one high-confidence variant meeting 1 or more criteria from each column in Table 1.