Genes associated with “CILD47”

Diagnostic yield calculator →
51 genes foundOpen Targets: ciliary dyskinesia, primary, 47, and lissencephaly
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
TP73 →

tumor protein p73

31
score
ClinGen: StrongGTR ↑

Ciliary dyskinesia, primary, 47, and lissencephaly

Frequency
-
P/LP Variants
6
OT Score
0.76

Consider

3 genes
13CILD47

CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47

10GLI3
Def

GLI family zinc finger 3

8NFIB
Def

nuclear factor I B

Possible

24 genes — click to expand
8MAPK8IP3
Def

mitogen-activated protein kinase 8 interacting protein 3

8DCC
Def

DCC netrin 1 receptor

8EFNB1
Def

ephrin B1

6FBN1
DefSF

fibrillin 1

6ATP7A
Def

ATPase copper transporting alpha

6ZIC3
Def

Zic family zinc finger 3

5MMP14

matrix metallopeptidase 14

5NR3C1

nuclear receptor subfamily 3 group C member 1

5NPAS3

neuronal PAS domain protein 3

5TRAF4

TNF receptor associated factor 4

5EDNRA

endothelin receptor type A

5NDST1

N-deacetylase and N-sulfotransferase 1

5FOXF1

forkhead box F1

4NKX2-1
Def

NK2 homeobox 1

4ABCA3
Def

ATP binding cassette subfamily A member 3

4HYDIN
Def

HYDIN axonemal central pair apparatus protein

4APP
Def

amyloid beta precursor protein

4SFTPB
Def

surfactant protein B

4TUBB2B
Def

tubulin beta 2B class IIb

4CFTR
Def

CF transmembrane conductance regulator

4ADAM17
Def

ADAM metallopeptidase domain 17

4SFTPC
Def

surfactant protein C

4KIFBP
Def

kinesin family binding protein

4PAX6
Def

paired box 6

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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.