Genes associated with “hemiplegic migraine

124 genes foundHPO: MigraineOpen Targets: familial or sporadic hemiplegic migraine502 ClinVar P/LP variants
Some sources returned errors (2)

omim: Error: OMIM search: 429

omimClinSyn: Error: OMIM CS: 429

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

4 genes
1
ATP1A2

ATPase Na+/K+ transporting subunit alpha 2

48
score
ClinGen: DefinitiveP2G #41GTR ↑

migraine, familial hemiplegic, 2

Frequency
100%
n=8
P/LP Variants
248
OT Score
0.85
2
SCN1A

sodium voltage-gated channel alpha subunit 1

47
score
ClinGen: DefinitiveP2G #39GTR ↑

migraine, familial hemiplegic, 3

Frequency
100%
n=18
P/LP Variants
121
OT Score
0.81
3
CACNA1A

calcium voltage-gated channel subunit alpha1 A

47
score
P2G #8GTR ↑

migraine, familial hemiplegic, 1

Frequency
100%
n=12
P/LP Variants
121
OT Score
0.84
4
PRRT2

proline rich transmembrane protein 2

22
score
ClinGen: DefinitiveGTR ↑

seizures, benign familial infantile, 2

Frequency
9%
n=67
P/LP Variants
8
OT Score
0.37

Consider

13 genes
20ENG
Def#19

telangiectasia, hereditary hemorrhagic, type 1

advanced sleep phase syndrome 2

13NOTCH3
Lim#6

cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1

13SMAD3
DefSF

aneurysm-osteoarthritis syndrome

11COL5A1
Def

fibromuscular dysplasia, multifocal

10TREX1
Def

retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

10GCDH
Def
9ACVRL1
Def

telangiectasia, hereditary hemorrhagic, type 2

9NFIX
Def
8STIM1
Def

Stormorken syndrome

8SLC2A1
Def

childhood onset GLUT1 deficiency syndrome 2

Possible

67 genes — click to expand
8JAG1
Def

Charcot-Marie-Tooth disease, axonal, Type 2HH

8COL4A1
Def

brain small vessel disease 1 with or without ocular anomalies

7SLC1A3
Def

episodic ataxia type 6

7CC2D1A
Def
7MAN2B1
Def
7NACC1
Def
7WDR45
Def

WD repeat domain 45

epilepsy, familial adult myoclonic, 2

6HPRT1
Def

hypoxanthine phosphoribosyltransferase 1

6SMAD2
Def

Loeys-Dietz syndrome 6

6MECP2
Def

methyl-CpG binding protein 2

basal ganglia calcification, idiopathic, 4

5GET3
Lim

basal ganglia calcification, idiopathic, 5

5AMACR
Def

alpha-methylacyl-CoA racemase deficiency

5PEX11B
Def

peroxisome biogenesis disorder 14B

5SPOP
Def

neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies

Schimke immuno-osseous dysplasia

4SUFU
Def

basal cell nevus syndrome 2

4DAND5
Dis
4RELN
Def

reelin

4TPP1
Def

tripeptidyl peptidase 1

4PSAP
Def

prosaposin

4SPTBN2
Def

spectrin beta, non-erythrocytic 2

4NPC1
Def

NPC intracellular cholesterol transporter 1

4ATP1A3
Def

ATPase Na+/K+ transporting subunit alpha 3

4TUBB4A
Def

tubulin beta 4A class IVa

4PRORP
Def

combined oxidative phosphorylation deficiency 54

4SCN8A
Def

sodium voltage-gated channel alpha subunit 8

4KCNA1
Def

potassium voltage-gated channel subfamily A member 1

4ASPA
Def

aspartoacylase

4MORC2
Def

MORC family CW-type zinc finger 2

4WWOX
Def

WW domain containing oxidoreductase

3ATP2B2
Def

ATPase plasma membrane Ca2+ transporting 2

3DST
Def

dystonin

3TWNK
Def

sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

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