Genes associated with “HPABH4A”

33 genes foundOpen Targets: BH4-deficient hyperphenylalaninemia A
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
PTS →

6-pyruvoyltetrahydropterin synthase

30
score
ClinGen: DefinitiveGTR ↑

Hyperphenylalaninemia, BH4-deficient, A

Frequency
-
P/LP Variants
118
OT Score
0.85
2
PAH →

phenylalanine hydroxylase

22
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
11
OT Score
0.53

Consider

6 genes
18GCH1
Def

GTP cyclohydrolase 1

13QDPR
Def

quinoid dihydropteridine reductase

13HPABH4A

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A

11ATP1A3
Def

ATPase Na+/K+ transporting subunit alpha 3

10HPRT1
Def

hypoxanthine phosphoribosyltransferase 1

9CACNA1A

calcium voltage-gated channel subunit alpha1 A

Possible

14 genes — click to expand
8ATP2B1

ATPase plasma membrane Ca2+ transporting 1

7DST
Def

dystonin

7SLC6A1

solute carrier family 6 member 1

6MECP2
Def

methyl-CpG binding protein 2

5SCN1A
Def

sodium voltage-gated channel alpha subunit 1

5ABCA2

ATP binding cassette subfamily A member 2

4TTBK1

tau tubulin kinase 1

4TEX12
4NPC1
Def

NPC intracellular cholesterol transporter 1

4ASPA
Def

aspartoacylase

3KCNQ1
DefSF

potassium voltage-gated channel subfamily Q member 1

3SCN8A
Def

sodium voltage-gated channel alpha subunit 8

3EML1
Def

EMAP like 1

3HTT
Def

huntingtin

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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.