Genes associated with “CPCMR”

22 genes foundOpen Targets: cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
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

1 gene
1
MEIS2 →

Meis homeobox 2

35
score
ClinGen: DefinitiveGTR ↑

Cleft palate, cardiac defects, and impaired intellectual development

Frequency
-
P/LP Variants
6
OT Score
0.79

Consider

1 gene
13CPCMR

CLEFT PALATE, CARDIAC DEFECTS, AND IMPAIRED INTELLECTUAL DEVELOPMENT; CPCMR

Possible

10 genes — click to expand
7SUFU
Def

SUFU negative regulator of hedgehog signaling

7FGFR2
Def

fibroblast growth factor receptor 2

7WNT5A
Mod

Wnt family member 5A

5PAX9
Def

paired box 9

5PDGFRB

platelet derived growth factor receptor beta

4CC2D2A
Def

coiled-coil and C2 domain containing 2A

4CPLANE1
Def

ciliogenesis and planar polarity effector complex subunit 1

4SOX11
Def

SRY-box transcription factor 11

4IFT140
Def

intraflagellar transport 140

3DYNC2H1
Def

dynein cytoplasmic 2 heavy chain 1

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.