Genes associated with “chorea”

Diagnostic yield calculator →
182 genes foundHPO: Chorea2 PanelApp panels
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

15 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
30
score
Panel: Green (2) ↑P2G #5GTR ↑

Chorea

Frequency
100%
n=2
P/LP Variants
264
OT Score
-
4
27
score
ClinGen: DefinitivePanel: Green (2) ↑P2G #1GTR ↑

Paroxysmal choreoathetosis

Frequency
42%
n=24
P/LP Variants
-
OT Score
-
5
27
score
ClinGen: DefinitivePanel: Amber (2) ↑P2G #6GTR ↑

Chorea

Frequency
-
P/LP Variants
1
OT Score
-
6
25
score
ClinGen: DefinitivePanel: Green (2) ↑P2G #48GTR ↑

Chorea

Frequency
45%
n=11
P/LP Variants
1
OT Score
-
7
23
score
ClinGen: DefinitivePanel: Green (2) ↑P2G #3GTR ↑

Choreoathetosis

Frequency
-
P/LP Variants
-
OT Score
-
8
23
score
ClinGen: DefinitivePanel: Green (2) ↑GTR ↑

Choreoathetosis

Frequency
56%
n=9
P/LP Variants
-
OT Score
-
9
23
score
Panel: Green (2) ↑GTR ↑

Chorea

Frequency
100%
n=4
P/LP Variants
2
OT Score
-
22OPA3
ModP:G×2

Chorea

21MECR
ModP:G×2

Chorea

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

Choreoathetosis

20ADCY5
DefP:G×2

Chorea

Consider

78 genes
19PDHA1
DefP:G×2#20

Choreoathetosis

19CDKL5
Def
19TNR
DefP:G

Choreoathetosis

18GCDH
DefP:G×2#11

Choreoathetosis

18GRIA2
Def

Chorea

18ARX
DefP:G×2

Choreoathetosis

18ARSA
DefP:G×2#13

Chorea

18DDC
DefP:G×2#17

Choreoathetosis

17DLAT
ModP:G×2

Choreoathetosis

17GCH1
DefP:G×2

Choreoathetosis

17PLP1
DefP:A×2

Choreoathetosis

17SETX
DefP:G#18

Chorea

17GRIN2A
Def
16TUBB4A
DefP:G×2

Choreoathetosis

16DCAF17
DefP:G×2

Choreoathetosis

16SLC30A9
DefP:G

Choreoathetosis

15FOXG1
DefP:G×2

Chorea

15AP1S2
DefP:G×2

Choreoathetosis

15GNAO1
DefP:G×2

Chorea

15GJC2
DefP:G

Choreoathetosis

15PNPT1
ModP:G×2

Choreoathetosis

15ATN1
DefP:R×2

Chorea

14GRIN1
DefP:G

Chorea

14GTPBP2
DefP:G×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

13COCPMR

CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION; COCPMR

13GNB1
DefP:G
13NKX2-1
Def
13JPH3
P:R#4

Chorea

12IRF2BPL
DefP:G

Choreoathetosis

12PANK2
P:G×2

Chorea

12PDGFRB
P:G×2

Chorea

12SLC19A3
DefP:G×2

Chorea

12UBTF
DefP:G

Chorea

12MECP2
Def

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

Chorea

10ERCC6
DefP:R×2

Choreoathetosis

10SFTA3
10FRRS1L
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

54 genes — click to expand
8PIGN
DefP:R

Choreoathetosis

8GRIN2B
Def

Chorea

8CHMP1A
P:R

Chorea

8NUP54
P:G

Chorea

8ELP2
Def

Choreoathetosis

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

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

6RHOBTB2
Def

Chorea

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

5GRIA4
Mod

Chorea

5DYT3

DYSTONIA 3, TORSION, X-LINKED; DYT3

5MAHCX

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblX TYPE; MAHCX

5PKDYS1

PARKINSONISM-DYSTONIA 1, INFANTILE-ONSET; PKDYS1

5SCA1

SPINOCEREBELLAR ATAXIA 1; SCA1

5SCA7

SPINOCEREBELLAR ATAXIA 7; SCA7

5SLEB17

SYSTEMIC LUPUS ERYTHEMATOSUS 17; SLEB17

5LONP1
LimP:R

Choreoathetosis

5CACNA2D2
Mod

Chorea

5TSEN34
P:R

Chorea

4SEPSECS
P:R

Chorea

4ATXN7
P:R

Chorea

4PITX3
P:R

Chorea

4GUF1
Lim

Choreoathetosis

4ABCA7
4IREB2

Choreoathetosis

4AP2M1
Def

Chorea

4TMEM106B
Def

Choreoathetosis

4SPOP
Def

Chorea

4SPTBN4
Def

Choreoathetosis

4ATP5MK
Mod

Chorea

4CERS1
Mod

Choreoathetosis

4TRPM3
Def

Choreoathetosis

3POU3F3
Def

Choreoathetosis

3TOE1
P:R

Choreoathetosis

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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.