Genes associated with “HLD7”

42 genes foundOpen Targets: leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism310 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
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Strong Candidates

2 genes
1
POLR3A →

RNA polymerase III subunit A

29
score
ClinGen: DefinitiveGTR ↑

Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism

Frequency
-
P/LP Variants
301
OT Score
0.78
2
POLR3B →

RNA polymerase III subunit B

21
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
8
OT Score
0.44

Consider

7 genes
13TMEM106B
Def

transmembrane protein 106B

13HLD7

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

12SCN8A
Def

sodium voltage-gated channel alpha subunit 8

11ATP1A3
Def

ATPase Na+/K+ transporting subunit alpha 3

10PMP22
Def

peripheral myelin protein 22

10CACNA1A

calcium voltage-gated channel subunit alpha1 A

10HPRT1
Def

hypoxanthine phosphoribosyltransferase 1

Possible

15 genes — click to expand
8SPTBN4
Def

spectrin beta, non-erythrocytic 4

5SCN1A
Def

sodium voltage-gated channel alpha subunit 1

5GRID2

glutamate ionotropic receptor delta type subunit 2

5TRIM2

tripartite motif containing 2

4TUBB4A
Def

tubulin beta 4A class IVa

4TPP1
Def

tripeptidyl peptidase 1

4ARSA
Def

arylsulfatase A

4PSAP
Def

prosaposin

3MTMR2
Def

myotubularin related protein 2

3SLC17A5
Def

solute carrier family 17 member 5

3GALC
Def

galactosylceramidase

3DST
Def

dystonin

3HSD17B4
Def

hydroxysteroid 17-beta dehydrogenase 4

3MTHFR
Def

methylenetetrahydrofolate reductase

3MTOR
Def

mechanistic target of rapamycin kinase

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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.