Genes associated with “AMC4”

7 genes foundOpen Targets: arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum
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
SCYL2 →

SCY1 like pseudokinase 2

24
score
GTR ↑

Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum

Frequency
-
P/LP Variants
8
OT Score
0.68

Consider

2 genes
13AMC4

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

10SATB2
Def

SATB homeobox 2

Possible

2 genes — click to expand
5GATA3
Def

GATA binding protein 3

3SIX1
Def

SIX homeobox 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.