Genes associated with “chorea”

Diagnostic yield calculator →
213 genes foundHPO: ChoreaOpen Targets: Chorea2 PanelApp panels
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

17 genes
1
41
score
ClinGen: DefinitivePanel: Green (2) ↑P2G #9GTR ↑

Choreoathetosis

Frequency
87%
n=93
P/LP Variants
1
OT Score
-
2
40
score
ClinGen: DefinitivePanel: Green (2) ↑P2G #2GTR ↑

Chorea

Frequency
71%
n=38
P/LP Variants
3
OT Score
-
3
GNAO1 →

G protein subunit alpha o1

38
score
ClinGen: DefinitivePanel: Green (2) ↑GTR ↑

Chorea

Frequency
50%
n=4
P/LP Variants
7
OT Score
0.43
4
VPS13A →

vacuolar protein sorting 13 homolog A

32
score
Panel: Green (2) ↑P2G #5GTR ↑

Chorea

Frequency
100%
n=2
P/LP Variants
265
OT Score
0.02
5
PDE2A →

phosphodiesterase 2A

29
score
Panel: Green (2) ↑GTR ↑

Chorea

Frequency
100%
n=4
P/LP Variants
2
OT Score
0.34
6
PRRT2 →

proline rich transmembrane protein 2

29
score
ClinGen: DefinitivePanel: Green (2) ↑P2G #1GTR ↑

Paroxysmal choreoathetosis

Frequency
42%
n=24
P/LP Variants
-
OT Score
0.03
7
HTT →

huntingtin

28
score
ClinGen: DefinitivePanel: Amber (2) ↑P2G #6GTR ↑

Chorea

Frequency
-
P/LP Variants
1
OT Score
0.02
8
SCN8A →

sodium voltage-gated channel alpha subunit 8

26
score
ClinGen: DefinitivePanel: Green (2) ↑GTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.27
9
25
score
ClinGen: DefinitivePanel: Green (2) ↑P2G #48GTR ↑

Chorea

Frequency
45%
n=11
P/LP Variants
1
OT Score
-
23HPRT1
DefP:G×2#3

Choreoathetosis

23SCN1A
DefP:G×2

Choreoathetosis

22OPA3
ModP:G×2

Chorea

22ADCY5
DefP:G×2

Chorea

21MECR
ModP:G×2

Chorea

21ATP7B
DefSFP:G×2
21VPS13D
LimP:G
20SLC2A1
DefP:G×2#12

Choreoathetosis

Consider

83 genes
19NKX2-1
Def

NK2 homeobox 1

19PDHA1
DefP:G×2#20

Choreoathetosis

19GRIN2A
Def

glutamate ionotropic receptor NMDA type subunit 2A

19TNR
DefP:G

Choreoathetosis

18GCDH
DefP:G×2#11

Choreoathetosis

18GRIA2
Def

Chorea

18ARX
DefP:G×2

Choreoathetosis

18FRRS1L
Def

Chorea

18ARSA
DefP:G×2#13

Chorea

18DDC
DefP:G×2#17

Choreoathetosis

17DLAT
ModP:G×2

Choreoathetosis

17GCH1
DefP:G×2

Choreoathetosis

17CDKL5
Def
17PLP1
DefP:A×2

Choreoathetosis

17SETX
DefP:G#18

Chorea

17GRIN1
DefP:G

Chorea

17SLC18A2
DefP:G

solute carrier family 18 member A2

16TUBB4A
DefP:G×2

Choreoathetosis

16CSTB
DefP:G×2

cystatin B

16DCAF17
DefP:G×2

Choreoathetosis

16SLC30A9
DefP:G

Choreoathetosis

15FOXG1
DefP:G×2

Chorea

15AP1S2
DefP:G×2

Choreoathetosis

15GJC2
DefP:G

Choreoathetosis

15GTPBP2
DefP:G×2

Choreoathetosis

15PNPT1
ModP:G×2

Choreoathetosis

15ATN1
DefP:R×2

Chorea

14RS1
Def
14NDUFA1
ModP:G×2

Choreoathetosis

14SPR
DefP:G×2

Choreoathetosis

14NDUFAF5
DefP:G

Choreoathetosis

14ATP1A3
DefP:G×2

Choreoathetosis

14PLA2G6
DefP:G×2

Chorea

14ATP1A2
DefP:G×2

Choreoathetosis

14PTS
DefP:G×2

Choreoathetosis

14QDPR
DefP:G×2

Choreoathetosis

14SUOX
DefP:G×2

Choreoathetosis

13HCFC1
DefP:G

Choreoathetosis

13GRIN2D
Def

glutamate ionotropic receptor NMDA type subunit 2D

13COCPMR

CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION; COCPMR

13GNB1
DefP:G
13CAMK4
P:G

calcium/calmodulin dependent protein kinase IV

13HSD17B10
DefP:G

Choreoathetosis

13JPH3
P:R#4

Chorea

12IRF2BPL
DefP:G

Choreoathetosis

12RHOBTB2
Def

Chorea

12PANK2
P:G×2

Chorea

12PDGFRB
P:G×2

Chorea

12SLC19A3
DefP:G×2

Chorea

12UBTF
DefP:G

Chorea

12MECP2
Def

Chorea

12CACNA1A
P:G×2

calcium voltage-gated channel subunit alpha1 A

12SLC20A2
P:G×2

Chorea

12PDE10A
P:G×2

Chorea

12GM2A
DefP:G

Chorea

11PDGFB
P:G×2

Chorea

11AFG3L2
DefP:G×2

Chorea

11NGLY1
DefP:G

Chorea

11TSEN54
P:R

Chorea

11NDUFA9
ModP:R×2

Choreoathetosis

11TAF1
P:G×2

Chorea

10ST3GAL5
DefP:R

Choreoathetosis

10ATXN1
P:R×2#19

Chorea

10COX20
DefP:G

Choreoathetosis

10XPR1
P:G×2

Choreoathetosis

10ERCC6
DefP:R×2

Choreoathetosis

10SFTA3
10GRIN2B
Def

Chorea

10CLPB
LimP:G

Choreoathetosis

10MICU1
Def

Chorea

10VAMP2
P:G×2

Chorea

9RNF216
P:G×2

Chorea

9SYT1
P:G

Choreoathetosis

9MRE11
RefP:G

Choreoathetosis

9NARS2
DefP:R
9ERCC2
Def

Choreoathetosis

9HSPD1
P:G

Choreoathetosis

9XPA
Def

Choreoathetosis

9ITPR1
DefP:A

Chorea

8SHQ1
P:G

Chorea

8STXBP1
Def

Choreoathetosis

8TRAPPC11
Def

Chorea

8AARS1
Def

Chorea

Possible

68 genes — click to expand
8PIGN
DefP:R

Choreoathetosis

8CHMP1A
P:R

Chorea

8NUP54
P:G

Chorea

8MRPS34
ModP:R

Choreoathetosis

7FBXL4
DefP:R

Choreoathetosis

7WARS2
Def

Chorea

7TMEM151A
P:G

Choreoathetosis

7NUP62
DisP:R×2

Choreoathetosis

7GRIK2
Def

Choreoathetosis

7KIF5A
Def

Chorea

7DNMT1
DefP:R

DNA methyltransferase 1

7VPS4A
P:G

Chorea

7FLVCR1
DefP:R

Chorea

7TIMM50
DefP:R

Choreoathetosis

7CTDP1
#16

Chorea

7EIF2AK2
P:G

Choreoathetosis

7CACNA1B
Mod

Choreoathetosis

6STUB1
P:A

Chorea

6HARS1
Ref

histidyl-tRNA synthetase 1

6TSEN2
P:R

Chorea

6GABRG2
DefP:R

Choreoathetosis

6NDUFA13
Mod

Choreoathetosis

6DHX30
Def

Chorea

6CARS2
Mod

Chorea

6MED23
Mod

Choreoathetosis

6NADK2
Mod

Choreoathetosis

6NAXD
Def

Chorea

6CIC
Def

Chorea

5RTN4IP1
Def

reticulon 4 interacting protein 1

5DRD2
P:R×2

dopamine receptor D2

5CD40LG
Def

CD40 ligand

5GRIA4
Mod

Chorea

5DEE64

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64; DEE64

5DYT3

DYSTONIA 3, TORSION, X-LINKED; DYT3

5MAHCX

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblX TYPE; MAHCX

5NEDMIAL

NEURODEVELOPMENTAL DISORDER WITH VARIABLE MOTOR AND LANGUAGE IMPAIRMENT; NEDMIAL

5SCA1

SPINOCEREBELLAR ATAXIA 1; SCA1

5SCA48

SPINOCEREBELLAR ATAXIA 48; SCA48

5SCA7

SPINOCEREBELLAR ATAXIA 7; SCA7

5SLEB17

SYSTEMIC LUPUS ERYTHEMATOSUS 17; SLEB17

5LONP1
LimP:R

Choreoathetosis

5CACNA2D2
Mod

Chorea

5ELP2

Choreoathetosis

5TSEN34
P:R

Chorea

4SEPSECS
P:R

Chorea

4ATXN7
P:R

Chorea

4PITX3
P:R

Chorea

4GUF1
Lim

Choreoathetosis

4ABCA7
4CYP11A1
4IREB2

Choreoathetosis

4DHX37

DEAH-box helicase 37

4AP2M1
Def

Chorea

4TMEM106B
Def

Choreoathetosis

4SPOP
Def

Chorea

4SPTBN4
Def

Choreoathetosis

4ATP5MK
Mod

Chorea

4CERS1
Mod

Choreoathetosis

4TRPM3
Def

Choreoathetosis

3LGI1
Def

leucine rich glioma inactivated 1

3POU3F3
Def

Choreoathetosis

3TOE1
P:R

Choreoathetosis

3NEFL
Def

neurofilament light chain

3GPR88

Chorea

3FUS
Def

FUS RNA binding protein

3GAD1
Def

glutamate decarboxylase 1

3FASLG
Def

Fas ligand

3TARDBP
Def

TAR DNA binding protein

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