Genes associated with “AMC4”

Diagnostic yield calculator →
48 genes foundOpen Targets: Neurogenic arthrogryposis multiplex congenita
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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Consider

10 genes
20SCYL2

SCY1 like pseudokinase 2

13AMC4

ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4

13FBN1
DefSF

fibrillin 1

11LGI4

leucine rich repeat LGI family member 4

10FGFR1
Def

fibroblast growth factor receptor 1

10COL2A1
Def

collagen type II alpha 1 chain

10GLI3
Def

GLI family zinc finger 3

10COL1A1
Def

collagen type I alpha 1 chain

10TCOF1
Def

treacle ribosome biogenesis factor 1

9ERGIC1

endoplasmic reticulum-golgi intermediate compartment 1

Possible

21 genes — click to expand
8FGFR2
Def

fibroblast growth factor receptor 2

8FGF9
Def

fibroblast growth factor 9

6PAX9
Def

paired box 9

6PHEX
Def

phosphate regulating endopeptidase X-linked

6GATA3
Def

GATA binding protein 3

6PTCH1
Def

patched 1

6SATB2
Def

SATB homeobox 2

6ZIC3
Def

Zic family zinc finger 3

6COL25A1

collagen type XXV alpha 1 chain

5FXYD3

FXYD domain containing ion transport regulator 3

5ZEB1

zinc finger E-box binding homeobox 1

5EDNRA

endothelin receptor type A

5MEOX2

mesenchyme homeobox 2

5ZBTB16

zinc finger and BTB domain containing 16

4COL6A3
Def

collagen type VI alpha 3 chain

4FGFR3
Def

fibroblast growth factor receptor 3

4FOXC1
Def

forkhead box C1

4ENPP1
Def

ectonucleotide pyrophosphatase/phosphodiesterase 1

4SH3PXD2B
Def

SH3 and PX domains 2B

4COMP
Def

cartilage oligomeric matrix protein

4FBN2
Def

fibrillin 2

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.