Genes associated with “chorea”

221 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
hover for details

Strong Candidates

19 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
0.44
4
32
score
ClinGen: DefinitivePanel: Amber (2) ↑P2G #6GTR ↑

Chorea

Frequency
-
P/LP Variants
4
OT Score
-
5
30
score
Panel: Green (2) ↑P2G #5GTR ↑

Chorea

Frequency
100%
n=2
P/LP Variants
271
OT Score
-
6
PRRT2 →

proline rich transmembrane protein 2

30
score
ClinGen: DefinitivePanel: Green (2) ↑P2G #1GTR ↑

Paroxysmal choreoathetosis

Frequency
42%
n=24
P/LP Variants
-
OT Score
0.09
7
PDE2A →

phosphodiesterase 2A

29
score
Panel: Green (2) ↑GTR ↑

Chorea

Frequency
100%
n=4
P/LP Variants
2
OT Score
0.34
8
SCN8A →

sodium voltage-gated channel alpha subunit 8

26
score
ClinGen: DefinitivePanel: Green (2) ↑GTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.28
9
NKX2-1 →

NK2 homeobox 1

25
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
5
OT Score
0.76
25SLC6A3
DefP:G×2

Chorea

25HPRT1
DefP:G×2#3

Choreoathetosis

23OPA3
ModP:G×2

Chorea

23SCN1A
DefP:G×2

Choreoathetosis

21MECR
ModP:G×2

Chorea

21ATP7B
DefSFP:G×2
21VPS13D
LimP:G
21CSTB
DefP:G×2

cystatin B

20SLC2A1
DefP:G×2#12

Choreoathetosis

20ADCY5
DefP:G×2

Chorea

Consider

81 genes
19PDHA1
DefP:G×2#20

Choreoathetosis

19TNR
DefP:G

Choreoathetosis

18GCDH
DefP:G×2#11

Choreoathetosis

18GRIA2
Def

Chorea

18ARX
DefP:G×2

Choreoathetosis

18FRRS1L
Def

Choreoathetosis

18ARSA
DefP:G×2#13

Chorea

18DDC
DefP:G×2#17

Choreoathetosis

17DLAT
ModP:G×2

Choreoathetosis

17SLC18A2
DefP:G

solute carrier family 18 member A2

17GCH1
DefP:G×2

Choreoathetosis

17CDKL5
Def
17PLP1
DefP:A×2

Choreoathetosis

17SETX
DefP:G#18

Chorea

16TUBB4A
DefP:G×2

Choreoathetosis

16DCAF17
DefP:G×2

Choreoathetosis

16SLC30A9
DefP:G

Choreoathetosis

15FOXG1
DefP:G×2

Chorea

15AP1S2
DefP:G×2

Choreoathetosis

15GJC2
DefP:G

Choreoathetosis

15RS1
Def
15GTPBP2
DefP:G×2

Choreoathetosis

15PNPT1
ModP:G×2

Choreoathetosis

14GRIN1
DefP:G

Chorea

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

13COCPMR

CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION; COCPMR

13GNB1
DefP:G
13GRIN2A
Def
13CAMK4
P:G

calcium/calmodulin dependent protein kinase IV

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

12ATN1
P:R×2

Chorea

12SLC20A2
P:G×2

Chorea

12HSD17B10
DefP:G

Choreoathetosis

12GM2A
DefP:G

Chorea

11PDGFB
P:G×2

Chorea

11AFG3L2
DefP:G×2

Chorea

11NGLY1
DefP:G

Chorea

11TSEN54
P:R

Chorea

11GRIN2D
Def
11NDUFA9
ModP:R×2

Choreoathetosis

11TAF1
P:G×2

Chorea

10PDE10A
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
10CLPB
LimP:G

Choreoathetosis

10CACNA1G
DefP:G

calcium voltage-gated channel subunit alpha1 G

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

66 genes — click to expand
8PIGN
DefP:R

Choreoathetosis

8GRIN2B
Def

Chorea

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

6GALC
DefP:R

galactosylceramidase

6MED23
Mod

Choreoathetosis

6NADK2
Mod

Choreoathetosis

6NAXD
Def

Chorea

6CIC
Def

Chorea

6AGL
DefP:R

amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase

6ALG12
DefP:R

ALG12 alpha-1,6-mannosyltransferase

6HEXB
DefP:R

hexosaminidase subunit beta

6PMP22
Def

peripheral myelin protein 22

6SPTBN4
Def

Choreoathetosis

6GRID2
P:A

glutamate ionotropic receptor delta type subunit 2

5RTN4IP1
Def

reticulon 4 interacting protein 1

5GRIA4
Mod

Chorea

5DYT3

DYSTONIA 3, TORSION, X-LINKED; DYT3

5IBGC1

BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1

5MAHCX

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblX TYPE; MAHCX

5NBIA2B

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; NBIA2B

5SCA1

SPINOCEREBELLAR ATAXIA 1; SCA1

5SCA7

SPINOCEREBELLAR ATAXIA 7; SCA7

5SLEB17

SYSTEMIC LUPUS ERYTHEMATOSUS 17; SLEB17

5ATCAY
P:A

ATCAY kinesin light chain interacting caytaxin

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

4ABCA7
4CYP11A1
4IREB2

Chorea

4DHX37

DEAH-box helicase 37

4AP2M1
Def

Chorea

4TMEM106B
Def

Choreoathetosis

4SPOP
Def

Chorea

4ATP5MK
Mod

Chorea

4CERS1
Mod

Choreoathetosis

4TRPM3
Def

Choreoathetosis

3POU3F3
Def

Choreoathetosis

3TOE1
P:R

Choreoathetosis

3GUF1

Choreoathetosis

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.