Osteogenesis imperfecta
Gene: PAX3
PAX3 (paired box 3)
EnsemblGeneIds (GRCh38): ENSG00000135903
EnsemblGeneIds (GRCh37): ENSG00000135903
OMIM: 606597, Gene2Phenotype
PAX3 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000135903
EnsemblGeneIds (GRCh37): ENSG00000135903
OMIM: 606597, Gene2Phenotype
PAX3 is in 14 panels
2 reviews
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Craniofacial-Deafness-Hand Syndrome
- OMIM
- 606597
- Clinvar variants
- Variants in PAX3
- Penetrance
- Complete
- Panels with this gene
-
- Sarcoma susceptibility
- Limb disorders
- DDG2P
- Sarcoma cancer susceptibility
- Structural eye disease
- Monogenic hearing loss
- Intellectual disability
- Fetal anomalies
- Pigmentary skin disorders
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Osteogenesis imperfecta
- Clefting
- Familial rhabdomyosarcoma
History Filter Activity
20 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PAX3 was added to Osteogenesis Imperfecta panel. Sources: Illumina TruGenome Clinical Sequencing Services