Genes associated with “HPABH4A”

Diagnostic yield calculator →
48 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
hover for details

Strong Candidates

2 genes
1
PTS →

6-pyruvoyltetrahydropterin synthase

30
score
ClinGen: DefinitiveGTR ↑

Hyperphenylalaninemia, BH4-deficient, A

Frequency
-
P/LP Variants
131
OT Score
0.86
2
PAH →

phenylalanine hydroxylase

22
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
11
OT Score
0.54

Consider

11 genes
18GCH1
Def

GTP cyclohydrolase 1

13HPABH4A

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A

12SCN8A
Def

sodium voltage-gated channel alpha subunit 8

10CACNA1A

calcium voltage-gated channel subunit alpha1 A

10PMP22
Def

peripheral myelin protein 22

8SPTBN4
Def

spectrin beta, non-erythrocytic 4

8DST
Def

dystonin

8QDPR
Def

quinoid dihydropteridine reductase

8ATP2B2
Def

ATPase plasma membrane Ca2+ transporting 2

8MYO5A
Def

myosin VA

8RELN
Def

reelin

Possible

19 genes — click to expand
6MECP2
Def

methyl-CpG binding protein 2

6PLP1
Def

proteolipid protein 1

6ARX
Def

aristaless related homeobox

4CSTB
Def

cystatin B

4KCNA1
Def

potassium voltage-gated channel subfamily A member 1

4PSAP
Def

prosaposin

4ATP1A3
Def

ATPase Na+/K+ transporting subunit alpha 3

4GABRA1
Def

gamma-aminobutyric acid type A receptor subunit alpha1

4VAPB
Def

VAMP associated protein B and C

4MPZ
Def

myelin protein zero

4ASPA
Def

aspartoacylase

4GALC
Def

galactosylceramidase

4ELP2
Def

elongator acetyltransferase complex subunit 2

4GABRB3
Def

gamma-aminobutyric acid type A receptor subunit beta3

4PRRT2
Def

proline rich transmembrane protein 2

4TEX12
4SLC6A5
Def

solute carrier family 6 member 5

4TPP1
Def

tripeptidyl peptidase 1

3CACNA2D2
Mod

calcium voltage-gated channel auxiliary subunit alpha2delta 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.