Genes associated with “HPABH4C”

Diagnostic yield calculator →
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
66
OT Score
0.85

Consider

3 genes
13HPABH4C

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C

8BOD1L1
8LDB2

Possible

69 genes — click to expand
7CC2D2A
Def
7HMX1
Def
7PROM1
Def
7RAB28
Def
6PLP1
Def

proteolipid protein 1

6MECP2
Def

methyl-CpG binding protein 2

6PMP22
Def

peripheral myelin protein 22

6ARX
Def

aristaless related homeobox

6DMD
Def

dystrophin

4SCN8A
Def

sodium voltage-gated channel alpha subunit 8

4SPTBN4
Def

spectrin beta, non-erythrocytic 4

4ACOX3
4BST1
4C1QTNF7
4CD38
4CPEB2
4CPEB2-DT
4DEFB131A
4DRD5
4FAM90A26
4FGFBP1
4FGFBP2
4GPR78
4HS3ST1
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
4WDR1
4ZBED11
4ZNF518B
4RELN
Def

reelin

4ATP2B2
Def

ATPase plasma membrane Ca2+ transporting 2

4GABRA1
Def

gamma-aminobutyric acid type A receptor subunit alpha1

4DST
Def

dystonin

4KCNA1
Def

potassium voltage-gated channel subfamily A member 1

4MPZ
Def

myelin protein zero

4GALC
Def

galactosylceramidase

4ELP2
Def

elongator acetyltransferase complex subunit 2

4CSTB
Def

cystatin B

4ASPA
Def

aspartoacylase

4NEFL
Def

neurofilament light chain

4ASS1
Def

argininosuccinate synthase 1

4ATP8A2
Def

ATPase phospholipid transporting 8A2

4HTT
Def

huntingtin

4GABRB3
Def

gamma-aminobutyric acid type A receptor subunit beta3

4ALX1
Def

ALX homeobox 1

4TPP1
Def

tripeptidyl peptidase 1

4VAPB
Def

VAMP associated protein B and C

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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.