Genes associated with “GD2”

Diagnostic yield calculator →

53 genes foundOpen Targets: hereditary spastic paraplegia 26

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

7 genes

Score

Gene

Evidence

Freq

P/LP

OT

Description

Def

beta-1,4-N-acetyl-galactosaminyltransferase 1

18

-

-

0.81

beta-1,4-N-acetyl-galactosaminyltransferase 1

Def

13

-

78

-

-

GAUCHER DISEASE, TYPE II; GD2

13

-

-

-

GAUCHER DISEASE, TYPE II; GD2

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

-

-

0.07

calcium voltage-gated channel subunit alpha1 A

Def

peripheral myelin protein 22

10

-

-

0.06

peripheral myelin protein 22

Def

myosin VA

8

-

-

0.07

myosin VA

Possible

28 genes — click to expand

Score

Gene

Evidence

Freq

P/LP

OT

Description

Def

prosaposin

8

-

-

0.07

prosaposin

Def

dystonin

8

DSTDef

-

-

0.06

dystonin

Dental anomalies and short stature

6

-

-

-

Dental anomalies and short stature

DS cell adhesion molecule

6

-

-

0.06

DS cell adhesion molecule

Def

dystrophin

6

DMDDef

-

-

0.06

dystrophin

Def

GLI family zinc finger 3

6

-

-

0.06

GLI family zinc finger 3

Def

hypoxanthine phosphoribosyltransferase 1

6

-

-

0.06

hypoxanthine phosphoribosyltransferase 1

glutamate ionotropic receptor delta type subunit 2

5

-

-

0.06

glutamate ionotropic receptor delta type subunit 2

ubiquitin specific peptidase 14

5

-

-

0.06

ubiquitin specific peptidase 14

ankyrin repeat and FYVE domain containing 1

5

-

-

0.06

ankyrin repeat and FYVE domain containing 1

Def

laminin subunit alpha 2

4

-

-

0.07

laminin subunit alpha 2

Def

forkhead box E3

4

-

-

0.07

forkhead box E3

DefSF

alpha glucosidase

4

GAADefSF

-

-

0.06

alpha glucosidase

Def

aspartoacylase

4

-

-

0.06

aspartoacylase

Def

solute carrier family 6 member 5

4

-

-

0.06

solute carrier family 6 member 5

Def

ATP/GTP binding carboxypeptidase 1

4

-

-

0.06

ATP/GTP binding carboxypeptidase 1

Def

cystatin B

4

-

-

0.06

cystatin B

Def

spectrin beta, non-erythrocytic 4

4

-

-

0.06

spectrin beta, non-erythrocytic 4

Def

ATPase plasma membrane Ca2+ transporting 2

4

-

-

0.06

ATPase plasma membrane Ca2+ transporting 2

Def

bone morphogenetic protein 4

4

-

-

0.06

bone morphogenetic protein 4

Def

lysosomal trafficking regulator

4

-

-

0.06

lysosomal trafficking regulator

Def

reelin

4

-

-

0.06

reelin

Def

palmitoyl-protein thioesterase 1

4

-

-

0.06

palmitoyl-protein thioesterase 1

Def

proline rich transmembrane protein 2

4

-

-

0.06

proline rich transmembrane protein 2

Def

TAR DNA binding protein

4

-

-

0.06

TAR DNA binding protein

Def

forkhead box C1

4

-

-

0.06

forkhead box C1

Def

MORC family CW-type zinc finger 2

4

-

-

0.06

MORC family CW-type zinc finger 2

Def

peroxisomal biogenesis factor 7

4

-

-

0.05

peroxisomal biogenesis factor 7

Related phenotype searches

Intellectual disability Global developmental delay Speech/language delay Neurodegeneration Developmental regression Seizures Epileptic encephalopathy Status epilepticus

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