Genes associated with “leukodystrophy”

Diagnostic yield calculator →
123 genes foundHPO: Leukodystrophy2 PanelApp panels
Some sources returned errors (3)

openTargets: Error: OT search: 403

omim: Error: OMIM search: 429

omimClinSyn: Error: OMIM CS: 429

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

33 genes
1
40
score
ClinGen: DefinitivePanel: Green (2) ↑GTR ↑
Frequency
-
P/LP Variants
19
OT Score
-
2
39
score
ClinGen: DefinitivePanel: Green (2) ↑P2G #3GTR ↑

Sudanophilic leukodystrophy

Frequency
-
P/LP Variants
8
OT Score
-
3
39
score
ClinGen: DefinitivePanel: Green (2) ↑GTR ↑
Frequency
-
P/LP Variants
71
OT Score
-
4
38
score
ClinGen: DefinitivePanel: Green ↑GTR ↑

Leukodystrophy

Frequency
-
P/LP Variants
4
OT Score
-
5
37
score
ClinGen: DefinitivePanel: Green (2) ↑GTR ↑

Leukodystrophy

Frequency
-
P/LP Variants
7
OT Score
-
6
33
score
ClinGen: DefinitivePanel: Green ↑GTR ↑

Leukodystrophy

Frequency
100%
n=6
P/LP Variants
1
OT Score
-
7
33
score
ClinGen: DefinitivePanel: Green ↑P2G #2GTR ↑

Dysmyelinating leukodystrophy

Frequency
-
P/LP Variants
11
OT Score
-
8
29
score
ClinGen: DefinitivePanel: Green (2) ↑GTR ↑

Leukodystrophy

Frequency
100%
n=5
P/LP Variants
7
OT Score
-
9
29
score
ClinGen: DefinitivePanel: Green ↑GTR ↑
Frequency
-
P/LP Variants
3
OT Score
-
29TUBB4A
DefP:G×2

Leukodystrophy

29TMEM106B
DefP:G

Leukodystrophy

27ABCD1
DefP:G×2
26LMNB1
DefP:G×2
26ADAR
DefP:G×2#12

Leukodystrophy

25POLR1C
DefP:G×2

Leukodystrophy

25POLR3A
DefP:G×2

Leukodystrophy

25PEX1
DefP:G×2

Leukodystrophy

25PEX16
DefP:G×2

Leukodystrophy

24SLC16A2
DefP:G#1

Leukodystrophy

23HSPD1
P:G

Leukodystrophy

23SAMHD1
DefP:G×2#10

Leukodystrophy

23RARS1
Def

Leukodystrophy

22NOTCH3
DefP:G×2

Leukodystrophy

22HYCC1
Def

Leukodystrophy

22AIMP2
DefP:A

Leukodystrophy

21ASPA
DefP:G×2
21GALC
DefP:G×2
21PEX12
DefP:G×2
21PEX5
DefP:G×2
21PEX6
DefP:G×2
20POLR1A
P:R

Leukodystrophy

20PYCR2
P:G

Leukodystrophy

20PEX10
DefP:G×2

Leukodystrophy

Consider

59 genes
19KCNT1
DefP:G
19SUMF1
DefP:G
18LAMB1
ModP:G×2
18CTC1
DefP:G×2#7

Leukodystrophy

18SOX10
DefP:G#8

Dysmyelinating leukodystrophy

18ACOX1
DefP:G#4

Leukodystrophy

17NDUFB11
DefP:G#20
17ATP11A
ModP:G

Leukodystrophy

17PI4KA
P:G

Leukodystrophy

17TMEM63A
P:G

Leukodystrophy

17SCO2
DefP:G
16NADK2
ModP:G

Leukodystrophy

16RNASEH2A
DefP:G×2#11

Leukodystrophy

16FBXL4
DefP:G

Leukodystrophy

15EPRS1

Leukodystrophy

15AARS2
DefP:G×2
15EIF2B1
DefP:G×2
15EIF2B4
DefP:G×2
15PEX26
DefP:G×2
15PEX3
DefP:G×2
15TYMP
DefP:G×2
14SLC25A12
ModP:G
14NDUFV1
DefP:G

Leukodystrophy

14NUBPL
DefP:G

Leukodystrophy

14NDUFS1
DefP:G

Leukodystrophy

14PLEKHG2
P:G

Leukodystrophy

13NDUFS4
DefP:G

Leukodystrophy

13ALDH7A1
DefP:G
13LAMA2
DefP:G
13SKI
DefP:G
13TUBGCP6
DefP:G
13SDHB
DefSFP:G

Leukodystrophy

12EDNRB
ModP:R#5

Leukodystrophy

12ABAT
ModP:G

Leukodystrophy

12CST3
LimP:G
12HTRA1
P:G×2
12SBF1
ModP:G
12DAG1
DefP:G

Leukodystrophy

12BOLA3
DefP:G

Leukodystrophy

12IBA57
DefP:G

Leukodystrophy

12ISCA2
DefP:G

Leukodystrophy

12TAOK1
DefP:G

Leukodystrophy

11ACER3
P:G

Leukodystrophy

11COX6B1
DefP:G

Leukodystrophy

11ERCC6
DefP:G

Leukodystrophy

11LIAS
ModP:G

Leukodystrophy

11ISCA1
P:G

Leukodystrophy

11PNPT1
ModP:G

Leukodystrophy

11TUFM
ModP:G

Leukodystrophy

11LSM7
P:A

Leukodystrophy

10SLC35B2
P:A

Leukodystrophy

10PGK1
P:G
10PLXNB2
P:G
10RAB9B
10SPATA22
9SPTBN1
DefP:G

Leukodystrophy

9GATAD1
Lim
9FBP2
P:R

Leukodystrophy

9GLRX5
P:G

Leukodystrophy

Possible

27 genes — click to expand
7COA8
Def

Cavitating leukodystrophy

7YARS1
Def
6NKX6-2
6PPTC7
4ADM2
4CHKB-CPT1B
4CHKB-DT
4CIMAP1B
4CPT1B
No
4DENND6B
4GRAMD2B
4HDAC10
4KLHDC7B
4KLHDC7B-DT
4LMF2
4LMNB1-DT
4MAPK11
4MAPK12
4MAPK8IP2
4NAE1
4NCAPH2
4PPP6R2
4RECQL
Dis
4SELENOO
4SPMIP10
4STAG3
4SYCE3

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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.