Rare syndromic craniosynostosis or isolated multisuture synostosis
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
Tracy Lester (Genetics laboratory, Oxford UK)
No CSS mentioned in cases on OMIM. ON Blueprint genetics CSS Panel. ; Review on behalf of Tracy Lester and Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Phenotypes
Craniofacial-deafness-hand syndrome; Waardenburg syndrome
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: PAX3; Suggested initial gene rating: redCreated: 5 Mar 2019, 11:21 a.m.
Details
- Sources
-
- NHS GMS
- Phenotypes
-
- Waardenburg syndrome
- Craniofacial-deafness-hand syndrome
- OMIM
- 606597
- Clinvar variants
- Variants in PAX3
- Penetrance
- None
- 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
11 May 2019, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Waardenburg syndrome; Craniofacial-deafness-hand syndrome for gene: PAX3
5 Mar 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: PAX3 was added gene: PAX3 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: PAX3 was set to