Genes associated with “CATSHLS”

10 genes foundOpen Targets: camptodactyly-tall stature-scoliosis-hearing loss syndrome
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
FGFR3 →

fibroblast growth factor receptor 3

25
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
42
OT Score
0.75

Consider

1 gene
13CATSHLS

CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME; CATSHLS

Possible

3 genes — click to expand
4PAX1
Def

paired box 1

4PRG4
Def

proteoglycan 4

3ACVR1
Def

activin A receptor type 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.