Genes associated with “IHPRF1”

Diagnostic yield calculator →
52 genes foundOpen Targets: hypotonia, infantile, with psychomotor retardation and characteristic facies 1
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
NALCN →

sodium leak channel, non-selective

26
score
GTR ↑

Congenital contractures of the limbs and face, hypotonia, and developmental delay

Frequency
-
P/LP Variants
56
OT Score
0.79
2
UNC80 →

unc-80 subunit of NALCN channel complex

20
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
1
OT Score
0.34

Consider

7 genes
13IHPRF1

HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1

10TCOF1
Def

treacle ribosome biogenesis factor 1

10ZIC3
Def

Zic family zinc finger 3

10GLI3
Def

GLI family zinc finger 3

10FGFR1
Def

fibroblast growth factor receptor 1

10PTCH1
Def

patched 1

9TBCK
Def

Possible

22 genes — click to expand
8FGFR2
Def

fibroblast growth factor receptor 2

8GLI2

GLI family zinc finger 2

8PDGFRA
Def

platelet derived growth factor receptor alpha

8FOXC1
Def

forkhead box C1

7OTX2

orthodenticle homeobox 2

6DSCAM

DS cell adhesion molecule

6FOXC2
Def

forkhead box C2

6COL2A1
Def

collagen type II alpha 1 chain

6DMD
Def

dystrophin

5EDNRA

endothelin receptor type A

5ZEB1

zinc finger E-box binding homeobox 1

5PSIP1

PC4 and SRSF1 interacting protein 1

4FGFR3
Def

fibroblast growth factor receptor 3

4MKS1
Def

MKS transition zone complex subunit 1

4SIX1
Def

SIX homeobox 1

4SH3PXD2B
Def

SH3 and PX domains 2B

4ALX1
Def

ALX homeobox 1

4FGF9
Def

fibroblast growth factor 9

4SOX11
Def

SRY-box transcription factor 11

4HSPG2
Def

heparan sulfate proteoglycan 2

4RPGRIP1L
Def

RPGRIP1 like

4LMNA
DefSF

lamin A/C

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.