Genes associated with “SPAX7”

Diagnostic yield calculator →

49 genes foundOpen Targets: spastic ataxia 7

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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Consider

8 genes

Score

Gene

Evidence

Freq

P/LP

OT

Description

SPASTIC ATAXIA 7, AUTOSOMAL DOMINANT; SPAX7

13

-

-

-

SPASTIC ATAXIA 7, AUTOSOMAL DOMINANT; SPAX7

Def

sodium voltage-gated channel alpha subunit 8

12

-

-

0.06

sodium voltage-gated channel alpha subunit 8

calcium voltage-gated channel subunit alpha1 A

10

-

-

0.08

calcium voltage-gated channel subunit alpha1 A

Def

paired like homeodomain 2

10

-

-

0.07

paired like homeodomain 2

Def

myosin VA

8

-

-

0.07

myosin VA

Def

paired box 6

8

-

-

0.07

paired box 6

Def

reelin

8

-

-

0.07

reelin

Def

spectrin beta, non-erythrocytic 4

8

-

-

0.07

spectrin beta, non-erythrocytic 4

Possible

28 genes — click to expand

Score

Gene

Evidence

Freq

P/LP

OT

Description

Def

bone morphogenetic protein 4

8

-

-

0.07

bone morphogenetic protein 4

Def

forkhead box C1

8

-

-

0.07

forkhead box C1

Def

DCC netrin 1 receptor

8

DCCDef

-

-

0.06

DCC netrin 1 receptor

Def

ATPase plasma membrane Ca2+ transporting 2

8

-

-

0.06

ATPase plasma membrane Ca2+ transporting 2

Mod

zinc finger protein 423

7

-

-

0.06

zinc finger protein 423

Def

methyl-CpG binding protein 2

6

-

-

0.06

methyl-CpG binding protein 2

Def

proteolipid protein 1

6

-

-

0.06

proteolipid protein 1

Def

melanocyte inducing transcription factor

6

-

-

0.06

melanocyte inducing transcription factor

Def

peripheral myelin protein 22

6

-

-

0.06

peripheral myelin protein 22

glutamate ionotropic receptor delta type subunit 2

5

-

-

0.08

glutamate ionotropic receptor delta type subunit 2

integrator complex subunit 15

5

-

-

0.06

integrator complex subunit 15

Def

ATP/GTP binding carboxypeptidase 1

4

-

-

0.07

ATP/GTP binding carboxypeptidase 1

Def

phosphodiesterase 6B

4

-

-

0.07

phosphodiesterase 6B

Def

forkhead box E3

4

-

-

0.07

forkhead box E3

Def

methyltransferase 23, arginine

4

-

-

0.07

methyltransferase 23, arginine

Def

nicotinamide nucleotide adenylyltransferase 1

4

-

-

0.06

nicotinamide nucleotide adenylyltransferase 1

Def

tubulin beta 4A class IVa

4

-

-

0.06

tubulin beta 4A class IVa

Def

SIL1 nucleotide exchange factor

4

-

-

0.06

SIL1 nucleotide exchange factor

Def

cystatin B

4

-

-

0.06

cystatin B

Def

dystonin

4

DSTDef

-

-

0.06

dystonin

Def

OPA1 mitochondrial dynamin like GTPase

4

-

-

0.06

OPA1 mitochondrial dynamin like GTPase

Def

serine protease 56

4

-

-

0.06

serine protease 56

Def

aspartoacylase

4

-

-

0.06

aspartoacylase

Def

spectrin beta, non-erythrocytic 2

4

-

-

0.06

spectrin beta, non-erythrocytic 2

Def

cadherin related 23

4

-

-

0.06

cadherin related 23

Def

calcium voltage-gated channel subunit alpha1 G

4

-

-

0.06

calcium voltage-gated channel subunit alpha1 G

Def

myosin heavy chain 10

4

-

-

0.06

myosin heavy chain 10

Def

prosaposin

4

-

-

0.06

prosaposin

Related phenotype searches

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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.