Genes associated with “myoclonus”

Diagnostic yield calculator →
320 genes foundHPO: MyoclonusOpen Targets: Myoclonus
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
39
score
ClinGen: DefinitiveGTR ↑

Myoclonus

Frequency
100%
n=16
P/LP Variants
74
OT Score
-
2
34
score
ClinGen: DefinitiveP2G #29GTR ↑

Myoclonus

Frequency
100%
n=2
P/LP Variants
24
OT Score
-
3
SCN8A →

sodium voltage-gated channel alpha subunit 8

33
score
ClinGen: DefinitiveGTR ↑

Limb myoclonus

Frequency
100%
n=5
P/LP Variants
4
OT Score
0.27
4
32
score
ClinGen: DefinitiveGTR ↑

Myoclonus

Frequency
100%
n=6
P/LP Variants
4
OT Score
-
5
32
score
ClinGen: DefinitiveP2G #2GTR ↑

Myoclonus

Frequency
100%
n=17
P/LP Variants
8
OT Score
-
6
24
score
ClinGen: DefinitiveGTR ↑

Myoclonus

Frequency
100%
n=3
P/LP Variants
8
OT Score
-
7
23
score
ClinGen: DefinitiveP2G #5GTR ↑
Frequency
-
P/LP Variants
24
OT Score
-
8
23
score
ClinGen: DefinitiveGTR ↑

Myoclonus

Frequency
100%
n=42
P/LP Variants
3
OT Score
-
9
22
score
GTR ↑

Myoclonus

Frequency
86%
n=227
P/LP Variants
2
OT Score
-
22STAMBP
#6

Myoclonus

22CHD2
Def
22KCNQ2
Def
21NEU1
Def

Myoclonus

20KMT2B
Def

Myoclonus

20SEMA6B
Def

Myoclonus

Consider

48 genes
19PGM3
Def

Myoclonus

19SLC2A1
Def

Myoclonus

17PRKCG
17ASAH1
Def

Myoclonus

17PRICKLE1
Lim

Myoclonus

17TBC1D24
Def

Myoclonus

16GRN
Def
16GFAP
Def

Palatal tremor

14ADCY5
Def

Myoclonus

14DDC
Def#15

Myoclonus

14ATM
Def#7

Myoclonus

14INPP5E
Def#3

Hemifacial spasm

13MYOCL1

MYOCLONUS, FAMILIAL, 1; MYOCL1

13MYOCL2

MYOCLONUS, FAMILIAL, 2; MYOCL2

13NEIMY

MYOCLONUS, INTRACTABLE, NEONATAL; NEIMY

13PLCB1
Def
13CERS1
Mod

Action myoclonus

13ATP13A2
Def#20

Myoclonus

12DNM1
Def

Myoclonus

12SUCLG1
Mod
12GCSH
Def

Myoclonus

11SCN1A
Def

Myoclonus

11CLN8
Def

Myoclonus

11CLN6
Def

Myoclonus

10TCF20
Def

transcription factor 20

10GLDC
Def#18

Myoclonus

10CASD1
10EPM2A-DT
10CLN5
Def

Myoclonus

10ATXN2
Def

Myoclonus

10NIPBL
Def

NIPBL cohesin loading factor

10EEF1A2
Def
9GRIN2B
Def

Myoclonus

9GAMT
Def

Myoclonus

9LRRC37A2
9CACNA1A
9PCDH19
Def
9SETD2
Def
9ZNF462
Def
9TBR1
Def

T-box brain transcription factor 1

9PIGA
Def

Myoclonus

9ST3GAL5
Def

Myoclonus

9SLC6A1
9ATP6V0A1

Myoclonus

8PSAP
Def

Myoclonus

8SDHD
DefSF

Myoclonus

8FARS2
Def

Myoclonus

8GRIN1
Def

Myoclonus

Possible

194 genes — click to expand
8AFG3L2
Def

Myoclonus

8SPTAN1
Def

Myoclonus

8GRIA3
Def

Myoclonus

8TPP1
Def

Myoclonus

7CTSF
Def

Myoclonus

7COG8
Def

Myoclonus

7SLC25A46
Def

Myoclonus

7CLN3
Def

Myoclonus

7TNR
Def

tenascin R

7PLA2G6
Def

Eyelid myoclonus

7POLG
Lim

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
7WARS2
Def
7CAMK4

calcium/calmodulin dependent protein kinase IV

7GRIK2
Def

Myoclonus

7AHDC1
Def

Myoclonus

7ALMS1
Def

ALMS1 centrosome and basal body associated protein

7DNAJC5
Mod

Myoclonus

7KCNC3
Def

Myoclonus

7DNAJC6
6NDUFAF3
Def

Myoclonus

6AMDHD2
6ATP6V0C
6CEMP1
6SLC6A5
Def

Myoclonus

6ARX
Def

Erratic myoclonus

6PDHA1
Def

Myoclonus

6MOCS1
Def

Myoclonic spasms

6MOCS2
Def

Myoclonic spasms

6YEATS2

Myoclonus

6NDUFV1
Def

Myoclonus

6MECR
Mod

Myoclonus

6CLDN9
Mod
6MT-TR
Mod
6SRRM2
6POMGNT1
Def

Myoclonus

6QDPR
Def

Myoclonus

6CHMP2B
Def

Myoclonus

6PNPO
Def

Myoclonus

6TNIK
Lim

TRAF2 and NCK interacting kinase

6CDKL5
Def

Myoclonus

6CIC
Def

Myoclonus

6SNCA
Def

Myoclonus

6GABRB2
Def

Myoclonus

6NOL3

Action myoclonus

6KCNA2
Def

Myoclonus

5CDH8

cadherin 8

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

5MSLHP

MUSCLE HYPERTROPHY; MSLHP

5SIK1
Lim
5PSEN2
Lim

Myoclonus

5CARS2
Mod

Myoclonus

5GLYCTK
Mod

Myoclonus

5RFT1
Mod

Myoclonus

5LIAS
Mod

Myoclonus

5FUS
Def

FUS RNA binding protein

5COQ2
Def

Myoclonus

5DARS2
Def

Myoclonus

5FLVCR1
Def

Myoclonus

5GTPBP2
Def

Eyelid myoclonus

5HNRNPU
Def

Myoclonus

5ITPR1
Def

Myoclonus

5KCNC2
Def

Eyelid myoclonus

5NFU1
Def

Myoclonus

5SCO2
Def

Myoclonus

5SRRM4

serine/arginine repetitive matrix 4

4GALNT17

polypeptide N-acetylgalactosaminyltransferase 17

4CTNNA2

catenin alpha 2

4HS3ST4

heparan sulfate-glucosamine 3-sulfotransferase 4

4EDIL3

EGF like and discoidin domains 3

4LIG3
Def

Myoclonus

4TTLL12

tubulin tyrosine ligase like 12

4KCTD17

Myoclonus

4SLC7A6OS

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
4GAS7

growth arrest specific 7

4DOCK7
Def

Myoclonus

4TIMMDC1
Def

Myoclonus

4SV2A

synaptic vesicle glycoprotein 2A

4AP2M1
Def

Myoclonus

4COXFA4
Def

Myoclonus

4NGLY1
Def

Myoclonus

4SAMD5

sterile alpha motif domain containing 5

4PAK1

p21 (RAC1) activated kinase 1

4ABCB7
Mod

Myoclonus

4ADGRL3

adhesion G protein-coupled receptor L3

4CRLS1
Mod

Myoclonus

4GALNTL6

polypeptide N-acetylgalactosaminyltransferase like 6

4LRP1B

LDL receptor related protein 1B

4SLC25A12
Mod

Myoclonus

4NAXD
Def

Myoclonus

4SATB1
Def

Myoclonus

4DIPK1A

divergent protein kinase domain 1A

4CNTN5

contactin 5

4LRRC70

leucine rich repeat containing 70

4FRRS1L
Def

Myoclonus

4POLR1C
Def

Myoclonus

4CD38

CD38 molecule

3ATN1
Def

Myoclonus

3GNB1
Def

Myoclonus

3VPS13D
Lim

Myoclonus

3ATP1A3
Def

Eyelid myoclonus

3CACNB4
Ref

Myoclonus

3IRS1

insulin receptor substrate 1

3PPARGC1A

PPARG coactivator 1 alpha

3JAG1

Polyminimyoclonus

3SLC39A10

solute carrier family 39 member 10

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

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.