Genes associated with “myoclonus”

Diagnostic yield calculator →
274 genes foundHPO: Myoclonus
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:
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Strong Candidates

14 genes
1
39
score
ClinGen: DefinitiveGTR ↑

Myoclonus

Frequency
100%
n=16
P/LP Variants
73
OT Score
-
2
34
score
ClinGen: DefinitiveP2G #29GTR ↑

Myoclonus

Frequency
100%
n=2
P/LP Variants
24
OT Score
-
3
32
score
ClinGen: DefinitiveP2G #2GTR ↑

Myoclonus

Frequency
100%
n=17
P/LP Variants
8
OT Score
-
4
28
score
ClinGen: DefinitiveGTR ↑

Limb myoclonus

Frequency
100%
n=5
P/LP Variants
4
OT Score
-
5
27
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
4
OT Score
-
6
24
score
ClinGen: DefinitiveP2G #5GTR ↑

Myoclonus

Frequency
-
P/LP Variants
24
OT Score
-
7
23
score
ClinGen: DefinitiveGTR ↑

Myoclonus

Frequency
100%
n=42
P/LP Variants
3
OT Score
-
8
22
score
P2G #6GTR ↑

Myoclonus

Frequency
60%
n=10
P/LP Variants
3
OT Score
-
9
22
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
75
OT Score
-
22KCNQ2
Def
20KIF5A
Def
20SEMA6B
Def

Myoclonus

20SERPINI1
Def

Myoclonus

20STARD7

Myoclonus

Consider

44 genes
19PGM3
Def

Myoclonus

17PRKCG
17ASAH1
Def

Myoclonus

17PRICKLE1
Lim

Myoclonus

16GRN
Def
16GFAP
Def

Palatal tremor

14ADCY5
Def

Myoclonus

14DDC
Def#15

Myoclonus

14KMT2B
Def

Myoclonus

14TBC1D24
Def

Myoclonus

14INPP5E
Def#3

Hemifacial spasm

14NEU1
Def

Myoclonus

13SLC2A1
Def

Myoclonus

13MYOCL1

MYOCLONUS, FAMILIAL, 1; MYOCL1

13MYOCL2

MYOCLONUS, FAMILIAL, 2; MYOCL2

13NEIMY

MYOCLONUS, INTRACTABLE, NEONATAL; NEIMY

13PLCB1
Def
13SLC6A1

Eyelid myoclonus

13CERS1
Mod

Myoclonus

13ATP13A2
Def#20

Myoclonus

12DNM1
Def

Myoclonus

12SUCLG1
Mod
12GCSH
Def

Myoclonus

11CLN8
Def

Myoclonus

11CLN6
Def

Myoclonus

10CASD1
10EPM2A-DT
10ADSL
Def

Myoclonus

10ATXN2
Def

Myoclonus

10EEF1A2
Def
9GAMT
Def

Myoclonus

9WARS2
Def
9LRRC37A2
9CACNA1A
9PSAP
Def

Myoclonus

9CACNA1B
Mod

Myoclonus

9PCDH19
Def
9SETD2
Def
9ZNF462
Def
9PIGA
Def

Myoclonus

9ATP6V0A1

Myoclonus

8SDHD
DefSF

Myoclonus

8GRIN1
Def

Myoclonus

8PPT1
Def

Myoclonus

Possible

165 genes — click to expand
8AFG3L2
Def

Myoclonus

8SPTAN1
Def

Myoclonus

8GRIA3
Def

Myoclonus

7HMGCL
Def

Myoclonus

7COG8
Def

Myoclonus

7SLC25A46
Def

Myoclonus

7PLA2G6
Def

Eyelid myoclonus

7POLG
Lim

Myoclonus

7PSAT1
Def

Myoclonus

7ABCA3
Def
7ACVRL1
Def
7ADGRV1
Def
7ATP1A2
Def
7CBS
Def
7DEPDC5
Def
7DHDDS
Def
7EPG5
Def
7FOLR1
Def
7KMT5B
Def
7RELN
Def
7RTEL1
Def
7THOC6
Def
7TRIO
Def
7GRIK2
Def

Myoclonus

7CNTN2
Def

Myoclonus

7AHDC1
Def

Myoclonus

7PDHA1
Def

Myoclonus

7KCNC3
Def

Myoclonus

7DNAJC6
6NDUFAF3
Def

Myoclonus

6SDHA
Def

Myoclonus

6AMDHD2
6ATP6V0C
6CEMP1
6SLC6A5
Def

Myoclonus

6ARX
Def

Erratic myoclonus

6MOCS1
Def

Myoclonic spasms

6MOCS2
Def

Myoclonic spasms

6YEATS2

Myoclonus

6CACNA1E
Def

Myoclonus

6NDUFV1
Def

Myoclonus

6MECR
Mod

Myoclonus

6CLDN9
Mod
6MT-TR
Mod
6SRRM2
6SOX10
Def

Myoclonus

6BRAT1
Def

Myoclonic spasms

6POMGNT1
Def

Myoclonus

6HIBCH
Def

Myoclonus

6QDPR
Def

Myoclonus

6CHMP2B
Def

Myoclonus

6PNPO
Def

Myoclonus

6CIC
Def

Myoclonus

6SNCA
Def

Myoclonus

6GABRB2
Def

Myoclonus

6NOL3

Action myoclonus

5GPHN
Mod

Myoclonus

5CCNF
Lim
5DYT11

DYSTONIA 11, MYOCLONIC; DYT11

5DYT23

Dystonia 23

5DYT26

DYSTONIA 26, MYOCLONIC; DYT26

5EPM4

EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE; EPM4

5EPM6

EPILEPSY, PROGRESSIVE MYOCLONIC, 6; EPM6

5FAME2

EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2

5GD3

GAUCHER DISEASE, TYPE III; GD3

5MECP2
Def

Myoclonus

5SIK1
Lim
5SLC9A6
Def

Myoclonus

5PSEN2
Lim

Myoclonus

5CARS2
Mod

Myoclonus

5GLYCTK
Mod

Myoclonus

5RFT1
Mod

Myoclonus

5LIAS
Mod

Myoclonus

5COQ2
Def

Myoclonus

5DARS2
Def

Myoclonus

5FLVCR1
Def

Myoclonus

5GTPBP2
Def

Eyelid myoclonus

5HNRNPU
Def

Myoclonus

5ITPR1
Def

Myoclonus

5SCO2
Def

Myoclonus

4LIG3
Def

Myoclonus

4PET100
Def

Myoclonus

4ACVR1B
4AGPAT3
4ANKRD33
4ATP6V1C1
4BICDL2
4BRICD5
4CAMK2B
4CASKIN1
4CLDN6
4CRYAA
4DNASE1L2
4DOP1A
4E4F1
4ECI1
4FIGNL2
4FLYWCH1
4FLYWCH2
4FNDC11
4GATD3
4GMEB2
4HCFC1R1
4HELZ2
4HSF2BP
4IL32
4IL6ST
4KCTD5
4KREMEN2
4MAST3
4ME1
4MLST8
4MMP25
4NAE1
4NTN3
4PAQR4
4PDPK1
4PKMYT1
4PPDPF
4PRSS21
4PRSS22
4PRSS27
4PRSS33
4PRSS41
4PTK6
4PWP2
4RNPS1
4RRP1
4RRP1B
4RWDD2A
4STMN3
4STUB1
4TEDC2
4TNFRSF12A
4TRAPPC10
4U2AF1
4ZG16B
4ZSCAN10
4DOCK7
Def

Myoclonus

4COQ5
Mod

Myoclonus

4AP2M1
Def

Myoclonus

4COXFA4
Def

Myoclonus

4NGLY1
Def

Myoclonus

4CDKL5
Def

Myoclonus

4ABCB7
Mod

Myoclonus

4SLC25A12
Mod

Myoclonus

4NAXD
Def

Myoclonus

4SATB1
Def

Myoclonus

4FRRS1L
Def

Myoclonus

4POLR1C
Def

Myoclonus

3ATN1
Def

Myoclonus

3GNB1
Def

Myoclonus

3VPS13D
Lim

Myoclonus

3CACNB4
Ref

Myoclonus

3BOLA3
Def

Myoclonus

3BSCL2
Def

Myoclonus

3CRELD1
Lim

Myoclonus

3DCAF17
Def

Myoclonus

3FOXRED1
Def

Myoclonus

3GBA1
Def

Myoclonus

3GLB1
Def

Myoclonus

3NAGA
Def

Myoclonus

3PURA
Def

Myoclonus

3RMND1
Def

Myoclonus

3TWNK
Def

Myoclonus

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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.