Genes associated with “HPABH4C”

91 genes foundOpen Targets: dihydropteridine reductase deficiency
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

1 gene
1
QDPR →

quinoid dihydropteridine reductase

30
score
ClinGen: DefinitiveGTR ↑

Hyperphenylalaninemia, BH4-deficient, C

Frequency
-
P/LP Variants
65
OT Score
0.85

Consider

2 genes
13HPABH4C

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C

8WDR1

Possible

64 genes — click to expand
7CC2D2A
Def
7HMX1
Def
7PROM1
Def
7RAB28
Def
6ARX
Def

aristaless related homeobox

6HPRT1
Def

hypoxanthine phosphoribosyltransferase 1

6MECP2
Def

methyl-CpG binding protein 2

5GCH1
Def

GTP cyclohydrolase 1

4ACOX3
4BOD1L1
4BST1
4C1QTNF7
4CD38
4CPEB2
4CPEB2-DT
4DEFB131A
4DRD5
4FAM200B
4FAM90A26
4FBXL5
4FGFBP1
4FGFBP2
4GPR78
4HS3ST1
4LDB2
4NKX3-2
4SLC2A9
4SNORA75B
4TAPT1
4TRMT44
4USP17L10
4USP17L11
4USP17L12
4USP17L13
4USP17L15
4USP17L17
4USP17L18
4USP17L19
4USP17L20
4USP17L21
4USP17L22
4USP17L24
4USP17L25
4USP17L26
4USP17L27
4USP17L28
4USP17L29
4USP17L30
4USP17L5
4ZNF518B
4ATP1A3
Def

ATPase Na+/K+ transporting subunit alpha 3

4HCN2
Def

hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2

4KCNQ1
DefSF

potassium voltage-gated channel subfamily Q member 1

3MYO6
Def

myosin VI

3SCN8A
Def

sodium voltage-gated channel alpha subunit 8

3ASPA
Def

aspartoacylase

3GABRG2
Def

gamma-aminobutyric acid type A receptor subunit gamma2

3NHLRC1
Def

NHL repeat containing E3 ubiquitin protein ligase 1

3PTS
Def

6-pyruvoyltetrahydropterin synthase

3SPR
Def

sepiapterin reductase

3PCBD1
Def

pterin-4 alpha-carbinolamine dehydratase 1

3PAH
Def

phenylalanine hydroxylase

3DDC
Def

dopa decarboxylase

3SLC18A2
Def

solute carrier family 18 member A2

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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.