Genes associated with “MYOCL2

55 genes foundOpen Targets: neurodevelopmental disorder
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

25 genes
1
SCN8A

sodium voltage-gated channel alpha subunit 8

38
score
ClinGen: DefinitiveGTR ↑

?Myoclonus, familial, 2

Frequency
-
P/LP Variants
12
OT Score
0.89
2
SCN1A

sodium voltage-gated channel alpha subunit 1

26
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.90
3
SCN2A

sodium voltage-gated channel alpha subunit 2

25
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.89
4
KDM5C

lysine demethylase 5C

25
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.86
5
DYNC1H1

dynein cytoplasmic 1 heavy chain 1

24
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.85
6
GRIN1

glutamate ionotropic receptor NMDA type subunit 1

23
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.89
7
ATP1A3

ATPase Na+/K+ transporting subunit alpha 3

23
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.87
8
KIF1A

kinesin family member 1A

23
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.86
9
SMARCA2

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2

23
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.85
23USP9X
Def

ubiquitin specific peptidase 9 X-linked

22CASK
Def

calcium/calmodulin dependent serine protein kinase

calcium voltage-gated channel subunit alpha1 A

22ARX
Def

aristaless related homeobox

22PCDH19
Def

protocadherin 19

22ATRX
Def

ATRX chromatin remodeler

22STXBP1
Def

syntaxin binding protein 1

22CDKL5
Def

cyclin dependent kinase like 5

22ZC4H2
Def

zinc finger C4H2-type containing

22CREBBP
Def

CREB binding lysine acetyltransferase

22RPS6KA3
Def

ribosomal protein S6 kinase A3

22SLC16A2
Def

solute carrier family 16 member 2

22SMS
Def

spermine synthase

22OFD1
Def

OFD1 centriole and centriolar satellite protein

22OPHN1
Def

oligophrenin 1

20GRIN2A
Def

glutamate ionotropic receptor NMDA type subunit 2A

Consider

25 genes
20GNAO1
Def

G protein subunit alpha o1

20GRIA2
Def

glutamate ionotropic receptor AMPA type subunit 2

19MECP2
Def

methyl-CpG binding protein 2

18SETBP1
Def

SET binding protein 1

18FOXG1
Def

forkhead box G1

18AP1S2
Def

adaptor related protein complex 1 subunit sigma 2

17TBL1XR1
Def

TBL1X/Y related 1

17CUL4B
Def

cullin 4B

17RAB39B
Def

RAB39B, member RAS oncogene family

17GRIN2B
Def

glutamate ionotropic receptor NMDA type subunit 2B

16VPS13B
Def

vacuolar protein sorting 13 homolog B

16MED12
Def

mediator complex subunit 12

16ATP1A2
Def

ATPase Na+/K+ transporting subunit alpha 2

16HUWE1
Def

HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1

16GNB1
Def

G protein subunit beta 1

16PNKP
Def

polynucleotide kinase 3'-phosphatase

16GABRB3
Def

gamma-aminobutyric acid type A receptor subunit beta3

16ZEB2
Def

zinc finger E-box binding homeobox 2

16SCN3A
Def

sodium voltage-gated channel alpha subunit 3

16TRIO
Def

trio Rho guanine nucleotide exchange factor

15GABRB2
Def

gamma-aminobutyric acid type A receptor subunit beta2

15TLK2
Def

tousled like kinase 2

15IRF2BPL
Def

interferon regulatory factor 2 binding protein like

15UBE2A
Def

ubiquitin conjugating enzyme E2 A

MYOCLONUS, FAMILIAL, 2; MYOCL2

Possible

4 genes — click to expand
7ACVRL1
Def

Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.