Clefting
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
1 review
Helen Brittain (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
WAARDENBURG
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- WAARDENBURG
- OMIM
- 606597
- Clinvar variants
- Variants in PAX3
- Penetrance
- Complete
- Panels with this gene
-
- Pigmentary skin disorders
- Fetal anomalies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Familial rhabdomyosarcoma
- Skeletal dysplasia
- Structural eye disease
- Limb disorders
- Sarcoma susceptibility
- Osteogenesis imperfecta
- Sarcoma cancer susceptibility
- Intellectual disability
- DDG2P
- Monogenic hearing loss
- Clefting
History Filter Activity
31 May 2017, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
26 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PAX3 was created by ellenmcdonagh
26 May 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)PAX3 was added to Cleftingpanel. Sources: Expert Review Green