Genes associated with “MYOCL2”

54 genes foundOpen Targets: brain disease12 ClinVar P/LP variants
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

12 genes
1
SCN8A →

sodium voltage-gated channel alpha subunit 8

39
score
ClinGen: DefinitiveGTR ↑

?Myoclonus, familial, 2

Frequency
-
P/LP Variants
12
OT Score
0.90
2
SCN1A →

sodium voltage-gated channel alpha subunit 1

26
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.93
3
SCN2A →

sodium voltage-gated channel alpha subunit 2

26
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.91
4
CACNA1A →

calcium voltage-gated channel subunit alpha1 A

22
score
GTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.89
5
SLC2A1 →

solute carrier family 2 member 1

22
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.88
6
ABCD1 →

ATP binding cassette subfamily D member 1

22
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.88
7
GRIN2A →

glutamate ionotropic receptor NMDA type subunit 2A

21
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.91
8
SCN3A →

sodium voltage-gated channel alpha subunit 3

21
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.90
9
GABRA1 →

gamma-aminobutyric acid type A receptor subunit alpha1

20
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.89
20GABRB3
Def

gamma-aminobutyric acid type A receptor subunit beta3

20SLC6A3
Def

solute carrier family 6 member 3

20COL4A1
Def

collagen type IV alpha 1 chain

Consider

37 genes
19ATM
Def

ATM serine/threonine kinase

18MECP2
Def

methyl-CpG binding protein 2

18STXBP1
Def

syntaxin binding protein 1

18PCDH19
Def

protocadherin 19

18GRIN2B
Def

glutamate ionotropic receptor NMDA type subunit 2B

18CDKL5
Def

cyclin dependent kinase like 5

18KCNQ2
Def

potassium voltage-gated channel subfamily Q member 2

17PSEN1
Dis

presenilin 1

17CACNA1G

calcium voltage-gated channel subunit alpha1 G

17APP
Def

amyloid beta precursor protein

16ARSA
Def

arylsulfatase A

16GABRG2
Def

gamma-aminobutyric acid type A receptor subunit gamma2

16PLA2G6
Def

phospholipase A2 group VI

16LRRK2
Def

leucine rich repeat kinase 2

16HEXA
Def

hexosaminidase subunit alpha

16SNCA
Def

synuclein alpha

16GABRB2
Def

gamma-aminobutyric acid type A receptor subunit beta2

16KCNC3
Def

potassium voltage-gated channel subfamily C member 3

16KCNT1
Def

potassium sodium-activated channel subfamily T member 1

16GLDC
Def

glycine decarboxylase

16AHI1
Def

Abelson helper integration site 1

16CC2D2A
Def

coiled-coil and C2 domain containing 2A

16WWOX
Def

WW domain containing oxidoreductase

16CYP27A1
Def

cytochrome P450 family 27 subfamily A member 1

16DEPDC5
Def

DEP domain containing 5, GATOR1 subcomplex subunit

16PRKN
Def

parkin RBR E3 ubiquitin protein ligase

16ATP1A2
Def

ATPase Na+/K+ transporting subunit alpha 2

16CSTB
Def

cystatin B

16FXN
Def

frataxin

16CHRNB2
Def

cholinergic receptor nicotinic beta 2 subunit

16C19ORF12
Def

chromosome 19 open reading frame 12

16HEXB
Def

hexosaminidase subunit beta

16PRRT2
Def

proline rich transmembrane protein 2

14GABRB1
Lim

gamma-aminobutyric acid type A receptor subunit beta1

13MYOCL2

MYOCLONUS, FAMILIAL, 2; MYOCL2

13PANK2

pantothenate kinase 2

13KCND3
Dis

potassium voltage-gated channel subfamily D member 3

Possible

4 genes — click to expand
7ACVRL1
Def
4ACVR1B
4ANKRD33
4FIGNL2

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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.