Genes associated with “leukodystrophy”

Diagnostic yield calculator →

162 genes foundHPO: LeukodystrophyOpen Targets: leukodystrophy2 PanelApp panels

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

59 genes

PLP1 →

proteolipid protein 1

score

ClinGen: DefinitivePanel: Green (2) ↑P2G #3GTR ↑

Sudanophilic leukodystrophy

Frequency

P/LP Variants

OT Score

0.89

ARSA →

arylsulfatase A

score

ClinGen: DefinitivePanel: Green (2) ↑GTR ↑

Frequency

P/LP Variants

OT Score

0.90

AIMP1 →

aminoacyl tRNA synthetase complex interacting multifunctional protein 1

score

ClinGen: DefinitivePanel: Green ↑GTR ↑

Leukodystrophy

Frequency

P/LP Variants

OT Score

0.84

GJC2 →

gap junction protein gamma 2

score

ClinGen: DefinitivePanel: Green (2) ↑GTR ↑

Leukodystrophy

Frequency

P/LP Variants

OT Score

0.87

TUBB4A →

tubulin beta 4A class IVa

score

ClinGen: DefinitivePanel: Green (2) ↑GTR ↑

Leukodystrophy

Frequency

100%

n=11

P/LP Variants

OT Score

0.77

DEGS1 →

delta 4-desaturase, sphingolipid 1

score

ClinGen: DefinitivePanel: Green ↑GTR ↑

Frequency

P/LP Variants

OT Score

0.82

ABCD1 →

ATP binding cassette subfamily D member 1

score

ClinGen: DefinitivePanel: Green (2) ↑GTR ↑

Frequency

P/LP Variants

OT Score

0.88

ADAR →

adenosine deaminase RNA specific

score

ClinGen: DefinitivePanel: Green (2) ↑P2G #12GTR ↑

Leukodystrophy

Frequency

79%

n=14

P/LP Variants

OT Score

0.85

PEX1 →

peroxisomal biogenesis factor 1

score

ClinGen: DefinitivePanel: Green (2) ↑GTR ↑

Leukodystrophy

Frequency

P/LP Variants

OT Score

0.88

Score

Gene

Evidence

Freq

P/LP

Description

39HSPD1

P:G

Leukodystrophy

HSPD1P:G

100%

0.83

Leukodystrophy

38PEX16

DefP:G×2

Leukodystrophy

PEX16DefP:G×2

0.83

Leukodystrophy

38POLR3A

DefP:G×2

Leukodystrophy

POLR3ADefP:G×2

0.80

Leukodystrophy

36PSAP

DefP:G×2

PSAPDefP:G×2

36SAMHD1

DefP:G×2#10

Leukodystrophy

SAMHD1DefP:G×2#10

94%

0.80

Leukodystrophy

35PEX6

DefP:G×2

peroxisomal biogenesis factor 6

PEX6DefP:G×2

0.89

peroxisomal biogenesis factor 6

35GFAP

DefP:G×2

glial fibrillary acidic protein

GFAPDefP:G×2

0.88

glial fibrillary acidic protein

35GALC

DefP:G×2

galactosylceramidase

GALCDefP:G×2

0.88

galactosylceramidase

35ASPA

DefP:G×2

aspartoacylase

ASPADefP:G×2

0.87

aspartoacylase

35PEX12

DefP:G×2

peroxisomal biogenesis factor 12

PEX12DefP:G×2

0.86

peroxisomal biogenesis factor 12

35PEX2

DefP:G×2

peroxisomal biogenesis factor 2

PEX2DefP:G×2

0.86

peroxisomal biogenesis factor 2

35PEX5

DefP:G×2

peroxisomal biogenesis factor 5

PEX5DefP:G×2

0.86

peroxisomal biogenesis factor 5

34PEX10

DefP:G×2

Leukodystrophy

PEX10DefP:G×2

100%

0.86

Leukodystrophy

33PYCR2

P:G

Leukodystrophy

PYCR2P:G

0.78

Leukodystrophy

33HIKESHI

DefP:G

Leukodystrophy

HIKESHIDefP:G

100%

Leukodystrophy

33PEX26

DefP:G×2

peroxisomal biogenesis factor 26

PEX26DefP:G×2

0.84

peroxisomal biogenesis factor 26

33FA2H

DefP:G#2

Dysmyelinating leukodystrophy

FA2HDefP:G#2

Dysmyelinating leukodystrophy

32EIF2B4

DefP:G×2

eukaryotic translation initiation factor 2B subunit delta

EIF2B4DefP:G×2

0.83

eukaryotic translation initiation factor 2B subunit delta

29POLR3B

DefP:G×2

Leukodystrophy

POLR3BDefP:G×2

100%

Leukodystrophy

29CYP27A1

DefP:G×2

cytochrome P450 family 27 subfamily A member 1

CYP27A1DefP:G×2

0.87

cytochrome P450 family 27 subfamily A member 1

29RNASEH2A

DefP:G×2#11

Leukodystrophy

RNASEH2ADefP:G×2#11

0.80

Leukodystrophy

29TMEM106B

DefP:G

Leukodystrophy

TMEM106BDefP:G

Leukodystrophy

29EIF2B1

DefP:G×2

eukaryotic translation initiation factor 2B subunit alpha

EIF2B1DefP:G×2

0.84

eukaryotic translation initiation factor 2B subunit alpha

28PEX3

DefP:G×2

peroxisomal biogenesis factor 3

PEX3DefP:G×2

0.83

peroxisomal biogenesis factor 3

28TREX1

DefP:G×2#13

three prime repair exonuclease 1

TREX1DefP:G×2#13

0.84

three prime repair exonuclease 1

28AARS2

DefP:G×2

alanyl-tRNA synthetase 2, mitochondrial

AARS2DefP:G×2

0.78

alanyl-tRNA synthetase 2, mitochondrial

28RNASEH2B

DefP:G×2#15

ribonuclease H2 subunit B

RNASEH2BDefP:G×2#15

0.80

ribonuclease H2 subunit B

28RNASEH2C

DefP:G×2#14

ribonuclease H2 subunit C

RNASEH2CDefP:G×2#14

0.79

ribonuclease H2 subunit C

26DARS2

DefP:G×2

aspartyl-tRNA synthetase 2, mitochondrial

DARS2DefP:G×2

0.79

aspartyl-tRNA synthetase 2, mitochondrial

25POLR1C

DefP:G×2

Leukodystrophy

POLR1CDefP:G×2

Leukodystrophy

24IFIH1

DefP:G

interferon induced with helicase C domain 1

IFIH1DefP:G

0.84

interferon induced with helicase C domain 1

24ISCA2

DefP:G

Leukodystrophy

ISCA2DefP:G

0.77

Leukodystrophy

24SLC16A2

DefP:G#1

Leukodystrophy

SLC16A2DefP:G#1

Leukodystrophy

24PEX13

DefP:G×2

peroxisomal biogenesis factor 13

PEX13DefP:G×2

0.86

peroxisomal biogenesis factor 13

24HEPACAM

DefP:G×2

hepatic and glial cell adhesion molecule

HEPACAMDefP:G×2

0.84

hepatic and glial cell adhesion molecule

24CSF1R

DefP:G×2

colony stimulating factor 1 receptor

CSF1RDefP:G×2

0.84

colony stimulating factor 1 receptor

24EIF2B5

DefP:G×2

eukaryotic translation initiation factor 2B subunit epsilon

EIF2B5DefP:G×2

0.84

eukaryotic translation initiation factor 2B subunit epsilon

24EIF2B2

DefP:G×2

eukaryotic translation initiation factor 2B subunit beta

EIF2B2DefP:G×2

0.83

eukaryotic translation initiation factor 2B subunit beta

23PEX19

DefP:G×2

peroxisomal biogenesis factor 19

PEX19DefP:G×2

0.83

peroxisomal biogenesis factor 19

23PEX11B

DefP:G×2

peroxisomal biogenesis factor 11 beta

PEX11BDefP:G×2

0.83

peroxisomal biogenesis factor 11 beta

23PEX7

DefP:G×2

peroxisomal biogenesis factor 7

PEX7DefP:G×2

0.83

peroxisomal biogenesis factor 7

23PEX14

DefP:G×2

peroxisomal biogenesis factor 14

PEX14DefP:G×2

0.82

peroxisomal biogenesis factor 14

23EIF2B3

DefP:G×2

eukaryotic translation initiation factor 2B subunit gamma

EIF2B3DefP:G×2

0.81

eukaryotic translation initiation factor 2B subunit gamma

23RARS1

Def

Leukodystrophy

RARS1Def

Leukodystrophy

22HYCC1

Def

Leukodystrophy

HYCC1Def

Leukodystrophy

22AIMP2

DefP:A

Leukodystrophy

AIMP2DefP:A

Leukodystrophy

21MLC1

DefP:G

modulator of VRAC current 1

MLC1DefP:G

0.83

modulator of VRAC current 1

21NOTCH3

DefP:G×2

Leukodystrophy

NOTCH3DefP:G×2

100%

Leukodystrophy

20ALDH3A2

P:G×2

aldehyde dehydrogenase 3 family member A2

ALDH3A2P:G×2

0.82

aldehyde dehydrogenase 3 family member A2

20CLCN2

RefP:G×2

chloride voltage-gated channel 2

CLCN2RefP:G×2

0.81

chloride voltage-gated channel 2

Consider

68 genes

Score

Gene

Evidence

Freq

P/LP

Description

20RNASET2

P:G×2

ribonuclease T2

RNASET2P:G×2

0.79

ribonuclease T2

20NKX6-2

NK6 homeobox 2

NKX6-2

0.81

NK6 homeobox 2

19KCNT1

DefP:G

KCNT1DefP:G

19SUMF1

DefP:G

SUMF1DefP:G

18LAMB1

ModP:G×2

LAMB1ModP:G×2

18CTC1

DefP:G×2#7

Leukodystrophy

CTC1DefP:G×2#7

Leukodystrophy

18SOX10

DefP:G#8

Dysmyelinating leukodystrophy

SOX10DefP:G#8

Dysmyelinating leukodystrophy

18ACOX1

DefP:G#4

Leukodystrophy

ACOX1DefP:G#4

Leukodystrophy

17NDUFB11

DefP:G#20

NDUFB11DefP:G#20

17ATP11A

ModP:G

Leukodystrophy

ATP11AModP:G

100%

Leukodystrophy

17PI4KA

P:G

Leukodystrophy

PI4KAP:G

Leukodystrophy

17SCO2

DefP:G

SCO2DefP:G

16POLR1A

P:R

Leukodystrophy

POLR1AP:R

100%

Leukodystrophy

16NADK2

ModP:G

Leukodystrophy

NADK2ModP:G

100%

Leukodystrophy

16TMEM63A

P:G

Leukodystrophy

TMEM63AP:G

Leukodystrophy

16FBXL4

DefP:G

Leukodystrophy

FBXL4DefP:G

100%

Leukodystrophy

15TYMP

DefP:G×2

TYMPDefP:G×2

14SLC25A12

ModP:G

SLC25A12ModP:G

14NDUFV1

DefP:G

Leukodystrophy

NDUFV1DefP:G

50%

Leukodystrophy

14NUBPL

DefP:G

Leukodystrophy

NUBPLDefP:G

100%

Leukodystrophy

14NDUFS1

DefP:G

Leukodystrophy

NDUFS1DefP:G

33%

Leukodystrophy

14PLEKHG2

P:G

Leukodystrophy

PLEKHG2P:G

Leukodystrophy

13EPRS1

Leukodystrophy

EPRS1

100%

Leukodystrophy

13NDUFS4

DefP:G

Leukodystrophy

NDUFS4DefP:G

Leukodystrophy

13ADLDTY

Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical

ADLDTY

Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical

13HLD14

LEUKODYSTROPHY, HYPOMYELINATING, 14; HLD14

HLD14

LEUKODYSTROPHY, HYPOMYELINATING, 14; HLD14

13HLD15

LEUKODYSTROPHY, HYPOMYELINATING, 15; HLD15

HLD15

LEUKODYSTROPHY, HYPOMYELINATING, 15; HLD15

13HLD16

LEUKODYSTROPHY, HYPOMYELINATING, 16; HLD16

HLD16

LEUKODYSTROPHY, HYPOMYELINATING, 16; HLD16

13HLD17

LEUKODYSTROPHY, HYPOMYELINATING, 17; HLD17

HLD17

LEUKODYSTROPHY, HYPOMYELINATING, 17; HLD17

13HLD18

LEUKODYSTROPHY, HYPOMYELINATING, 18; HLD18

HLD18

LEUKODYSTROPHY, HYPOMYELINATING, 18; HLD18

13HLD19

LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19

HLD19

LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19

13HLD20

LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20

HLD20

LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20

13HLD21

LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21

HLD21

LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21

13HLD22

LEUKODYSTROPHY, HYPOMYELINATING, 22; HLD22

HLD22

LEUKODYSTROPHY, HYPOMYELINATING, 22; HLD22

13HLD23

LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23

HLD23

LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23

13HLD24

LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24

HLD24

LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24

13LAMA2

DefP:G

LAMA2DefP:G

13PLDECO

LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET; PLDECO

PLDECO

LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET; PLDECO

13RDLKD

RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD

RDLKD

RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD

13SKI

DefP:G

SKIDefP:G

13TUBGCP6

DefP:G

TUBGCP6DefP:G

13SDHB

DefSFP:G

Leukodystrophy

SDHBDefSFP:G

100%

Leukodystrophy

12EDNRB

ModP:R#5

Leukodystrophy

EDNRBModP:R#5

Leukodystrophy

12ABAT

ModP:G

Leukodystrophy

ABATModP:G

50%

Leukodystrophy

12CST3

LimP:G

CST3LimP:G

12HTRA1

P:G×2

HTRA1P:G×2

12SBF1

ModP:G

SBF1ModP:G

12DAG1

DefP:G

Leukodystrophy

DAG1DefP:G

Leukodystrophy

12BOLA3

DefP:G

Leukodystrophy

BOLA3DefP:G

Leukodystrophy

12IBA57

DefP:G

Leukodystrophy

IBA57DefP:G

Leukodystrophy

12TAOK1

DefP:G

Leukodystrophy

TAOK1DefP:G

13%

Leukodystrophy

11ACER3

P:G

Leukodystrophy

ACER3P:G

100%

Leukodystrophy

11COX6B1

DefP:G

Leukodystrophy

COX6B1DefP:G

100%

Leukodystrophy

11ERCC6

DefP:G

Leukodystrophy

ERCC6DefP:G

100%

Leukodystrophy

11LIAS

ModP:G

Leukodystrophy

LIASModP:G

Leukodystrophy

11ISCA1

P:G

Leukodystrophy

ISCA1P:G

100%

Leukodystrophy

11PNPT1

ModP:G

Leukodystrophy

PNPT1ModP:G

Leukodystrophy

11TUFM

ModP:G

Leukodystrophy

TUFMModP:G

Leukodystrophy

11LSM7

P:A

Leukodystrophy

LSM7P:A

100%

Leukodystrophy

10SLC35B2

P:A

Leukodystrophy

SLC35B2P:A

50%

Leukodystrophy

10PGK1

P:G

PGK1P:G

10PLXNB2

P:G

PLXNB2P:G

10RAB9B

RAB9B

10SPATA22

SPATA22

9SPTBN1

DefP:G

Leukodystrophy

SPTBN1DefP:G

Leukodystrophy

9GATAD1

Lim

GATAD1Lim

9FBP2

P:R

Leukodystrophy

FBP2P:R

67%

Leukodystrophy

9GLRX5

P:G

Leukodystrophy

GLRX5P:G

Leukodystrophy

Possible

30 genes — click to expand

Score

Gene

Evidence

Freq

P/LP

Description

7COA8

Def

Cavitating leukodystrophy

COA8Def

100%

Cavitating leukodystrophy

7YARS1

Def

YARS1Def

6PPTC7

PPTC7

5HLD11

LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11

HLD11

LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11

5HLD26

LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA; HLD26

HLD26

LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA; HLD26

5HLD4

LEUKODYSTROPHY, HYPOMYELINATING, 4; HLD4

HLD4

LEUKODYSTROPHY, HYPOMYELINATING, 4; HLD4

5HLD6

LEUKODYSTROPHY, HYPOMYELINATING, 6; HLD6

HLD6

LEUKODYSTROPHY, HYPOMYELINATING, 6; HLD6

5HLD7

LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD7

HLD7

LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD7

5HLD8

LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD8

HLD8

LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD8

5MLDSAPB

METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY; MLDSAPB

MLDSAPB

METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY; MLDSAPB

CPT1BNo

Dis

RECQLDis