Genes associated with “FHM1”

53 genes foundOpen Targets: migraine, familial hemiplegic, 1141 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
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Strong Candidates

1 gene
1
CACNA1A →

calcium voltage-gated channel subunit alpha1 A

35
score
GTR ↑

Developmental and epileptic encephalopathy 42

Frequency
-
P/LP Variants
107
OT Score
0.82

Consider

4 genes
13ATP1A2
Def
13FHM1

MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1

11WDR45
Def

WD repeat domain 45

10HPRT1
Def

hypoxanthine phosphoribosyltransferase 1

Possible

21 genes — click to expand
8RELN
Def

reelin

8PSAP
Def

prosaposin

6MECP2
Def

methyl-CpG binding protein 2

6SCN1A
Def

sodium voltage-gated channel alpha subunit 1

5EA2

EPISODIC ATAXIA, TYPE 2; EA2

5FHM2

MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

5FHM3

MIGRAINE, FAMILIAL HEMIPLEGIC, 3; FHM3

5GRID2

glutamate ionotropic receptor delta type subunit 2

4TPP1
Def

tripeptidyl peptidase 1

4NPC1
Def

NPC intracellular cholesterol transporter 1

4TUBB4A
Def

tubulin beta 4A class IVa

4ATP1A3
Def

ATPase Na+/K+ transporting subunit alpha 3

4SCN8A
Def

sodium voltage-gated channel alpha subunit 8

4KCNA1
Def

potassium voltage-gated channel subfamily A member 1

4ASPA
Def

aspartoacylase

4SPTBN2
Def

spectrin beta, non-erythrocytic 2

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

3MYO6
Def

myosin VI

Related phenotype searches

Epileptic encephalopathyDravet syndromeHSPCMT/HMSNSpinocerebellar ataxiaCerebellar ataxiaEpisodic ataxiaMuscular dystrophy

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