Genes associated with “HLD5”

55 genes foundOpen Targets: hypomyelinating leukodystrophy 5
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
HYCC1 →

hyccin PI4KA lipid kinase complex subunit 1

28
score
ClinGen: DefinitiveGTR ↑

Leukodystrophy, hypomyelinating, 5

Frequency
-
P/LP Variants
29
OT Score
0.72

Consider

7 genes
13HLD5

LEUKODYSTROPHY, HYPOMYELINATING, 5; HLD5

12SCN8A
Def

sodium voltage-gated channel alpha subunit 8

10NHS
Def

NHS actin remodeling regulator

10PMP22
Def

peripheral myelin protein 22

9STAG3

STAG3 cohesin complex component

8RAPGEF5
8SP4

Possible

25 genes — click to expand
8PAX6
Def

paired box 6

7DNAH11
Def
6FEZF2

FEZ family zinc finger 2

6SCN1A
Def

sodium voltage-gated channel alpha subunit 1

5CASP10
Lim
4TUBB4A
Def

tubulin beta 4A class IVa

4FOXE3
Def

forkhead box E3

4CDCA7L
4IL6
4STEAP1B
4TOMM7
4MPZ
Def

myelin protein zero

4TRPM3
Def

transient receptor potential cation channel subfamily M member 3

4FOXC1
Def

forkhead box C1

4SPTBN4
Def

spectrin beta, non-erythrocytic 4

4ATP2B2
Def

ATPase plasma membrane Ca2+ transporting 2

4CPOX
Def

coproporphyrinogen oxidase

4MORC2
Def

MORC family CW-type zinc finger 2

4GALC
Def

galactosylceramidase

4MTMR2
Def

myotubularin related protein 2

4FGF9
Def

fibroblast growth factor 9

4DNM1
Def

dynamin 1

4EGR2
Def

early growth response 2

4SH3TC2
Def

SH3 domain and tetratricopeptide repeats 2

4TPP1
Def

tripeptidyl peptidase 1

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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.