Genes associated with “HLD6”

Diagnostic yield calculator →
45 genes foundOpen Targets: hypomyelinating leukodystrophy 6
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
64
OT Score
0.77

Consider

7 genes
13HLD6

LEUKODYSTROPHY, HYPOMYELINATING, 6; HLD6

12SCN8A
Def

sodium voltage-gated channel alpha subunit 8

10CACNA1A

calcium voltage-gated channel subunit alpha1 A

10PMP22
Def

peripheral myelin protein 22

10PLP1
Def

proteolipid protein 1

8RELN
Def

reelin

8SPTBN4
Def

spectrin beta, non-erythrocytic 4

Possible

22 genes — click to expand
8ATP2B2
Def

ATPase plasma membrane Ca2+ transporting 2

8DST
Def

dystonin

8MYO5A
Def

myosin VA

7ZNF423
Mod

zinc finger protein 423

6MECP2
Def

methyl-CpG binding protein 2

5GRID2

glutamate ionotropic receptor delta type subunit 2

5ATXN7

ataxin 7

5DAB1

DAB adaptor protein 1

4CSTB
Def

cystatin B

4AGTPBP1
Def

ATP/GTP binding carboxypeptidase 1

4KCNA1
Def

potassium voltage-gated channel subfamily A member 1

4ASPA
Def

aspartoacylase

4GALC
Def

galactosylceramidase

4PSAP
Def

prosaposin

4EGR2
Def

early growth response 2

4LAMA2
Def

laminin subunit alpha 2

4SLC6A5
Def

solute carrier family 6 member 5

4TPP1
Def

tripeptidyl peptidase 1

4HTT
Def

huntingtin

4MPZ
Def

myelin protein zero

4KCNQ1
DefSF

potassium voltage-gated channel subfamily Q member 1

4SPTBN2
Def

spectrin beta, non-erythrocytic 2

Related phenotype searches

Intellectual disabilityGlobal developmental delaySpeech/language delayNeurodegenerationDevelopmental regressionSeizuresEpileptic encephalopathyStatus epilepticus

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