Genes associated with “HLD6”

45 genes foundOpen Targets: hypomyelinating leukodystrophy 662 ClinVar P/LP variants
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
TUBB4A →

tubulin beta 4A class IVa

29
score
ClinGen: DefinitiveGTR ↑

Dystonia 4, torsion, autosomal dominant

Frequency
-
P/LP Variants
62
OT Score
0.77

Consider

5 genes
13HLD6

LEUKODYSTROPHY, HYPOMYELINATING, 6; HLD6

12SCN8A
Def

sodium voltage-gated channel alpha subunit 8

10PMP22
Def

peripheral myelin protein 22

10CACNA1A

calcium voltage-gated channel subunit alpha1 A

10PLP1
Def

proteolipid protein 1

Possible

20 genes — click to expand
8PSAP
Def

prosaposin

8PDGFRA
Def

platelet derived growth factor receptor alpha

8SPTBN4
Def

spectrin beta, non-erythrocytic 4

7ANK3
Mod

ankyrin 3

5GRID2

glutamate ionotropic receptor delta type subunit 2

5SULT4A1

sulfotransferase family 4A member 1

5TRIM2

tripartite motif containing 2

5ANKFY1

ankyrin repeat and FYVE domain containing 1

4MPZ
Def

myelin protein zero

4TPP1
Def

tripeptidyl peptidase 1

4GALC
Def

galactosylceramidase

3MORC2
Def

MORC family CW-type zinc finger 2

3MTMR2
Def

myotubularin related protein 2

3RELN
Def

reelin

3SLC17A5
Def

solute carrier family 17 member 5

3EGR2
Def

early growth response 2

3ATP8A2
Def

ATPase phospholipid transporting 8A2

3DST
Def

dystonin

3VAPB
Def

VAMP associated protein B and C

3SPTBN2
Def

spectrin beta, non-erythrocytic 2

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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.