Genes associated with “GD2

53 genes foundOpen Targets: complex hereditary spastic paraplegia
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

1 gene
1
L1CAM

L1 cell adhesion molecule

21
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.83

Consider

38 genes

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

kinesin family member 1C

tectonin beta-propeller repeat containing 2

aldehyde dehydrogenase 18 family member A1

15ATP13A2
Def

ATPase cation transporting 13A2

15PNPLA6
Def

patatin like domain 6, lysophospholipase

15SPART
Def

spartin

kinase D interacting substrate 220

15ERLIN2
Def

ER lipid raft associated 2

15SPG11
Def

SPG11 vesicle trafficking associated, spatacsin

15GBA2
Def

glucosylceramidase beta 2

14BSCL2
Def

BSCL2 lipid droplet biogenesis associated, seipin

14GPT2
Def

glutamic--pyruvic transaminase 2

14NT5C2
Def

5'-nucleotidase, cytosolic II

14ENTPD1
Def

ectonucleoside triphosphate diphosphohydrolase 1

14ARL6IP1
Def

ARL6 interacting reticulophagy regulator 1

13IBA57
Def

iron-sulfur cluster assembly factor IBA57

13GJC2
Def

gap junction protein gamma 2

13GD2

GAUCHER DISEASE, TYPE II; GD2

chromosome 19 open reading frame 12

12DSTYK
Mod

dual serine/threonine and tyrosine protein kinase

zinc finger FYVE-type containing 26

HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1

DDHD domain containing 2

11FA2H
Def

fatty acid 2-hydroxylase

11MTRFR
Def

mitochondrial translation release factor in rescue

ring finger protein 170

11MT-ATP6
Def

mitochondrially encoded ATP synthase membrane subunit 6

abhydrolase domain containing 16A, phospholipase

adenosine monophosphate deaminase 2

9AP5Z1
Def

adaptor related protein complex 5 subunit zeta 1

9CNNM2
Def

cyclin and CBS domain divalent metal cation transport mediator 2

phosphate cytidylyltransferase 2, ethanolamine

9MAG
Def

myelin associated glycoprotein

RAB3 GTPase activating non-catalytic protein subunit 2

9VCP
Def

valosin containing protein

chaperonin containing TCP1 subunit 5

8VPS37A
Lim

VPS37A subunit of ESCRT-I

Possible

10 genes — click to expand

cAMP responsive element binding protein 3

SPG21 abhydrolase domain containing, maspardin

novel protein

7SQSTM1
Mod

sequestosome 1

7MARS1
Lim

methionyl-tRNA synthetase 1

ubiquitin specific peptidase 8

SPG7 matrix AAA peptidase subunit, paraplegin

post-GPI attachment to proteins inositol deacylase 1

WD repeat domain 48

kinesin light chain 2

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