Clefting
Gene: SOX9
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CAMPOMELIC DYSPLASIA
Publications
Comment on phenotypes: added additional phenotypes relevant to clefting from curated sourcesCreated: 8 Feb 2017, 1:43 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cleft palate with skeletal abnormalities; Campomelic dysplasia
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Orofacial Clefting with Skeletal Features; CAMPOMELIC DYSPLASIA; 114290
Victorian Clinical Genetics Services was added to SOX9. Panel: Clefting Phenotypes for gene SOX9 were set to Orofacial Clefting with Skeletal Features, Cleft palate with skeletal abnormalities, CAMPOMELIC DYSPLASIA,114290, Acampomelic campomelic dysplasia, 114290, Campomelic dysplasia with autosomal sex reversal, 114290, CAMPOMELIC DYSPLASIA, Cleft palate
Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
SOX9 was added to Cleftingpanel. Source: Expert Review Green Model of inheritance for gene SOX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for SOX9 were set to 7990924;8894698;15806394;24038782;7485151;19449405;12783851
Phenotypes for SOX9 were set to Orofacial Clefting with Skeletal Features; Cleft palate with skeletal abnormalities; CAMPOMELIC DYSPLASIA,114290; Acampomelic campomelic dysplasia, 114290; Campomelic dysplasia with autosomal sex reversal, 114290
Phenotypes for SOX9 were set to Orofacial Clefting with Skeletal Features; CAMPOMELIC DYSPLASIA,114290; Acampomelic campomelic dysplasia, 114290; Campomelic dysplasia with autosomal sex reversal, 114290
Phenotypes for SOX9 were set to Orofacial Clefting with Skeletal Features; CAMPOMELIC DYSPLASIA,114290; Acampomelic campomelic dysplasia, 114290; Campomelic dysplasia with autosomal sex reversal, 114290
Mode of inheritance for SOX9 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
SOX9 was added to Cleftingpanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
SOX9 was created by ellenmcdonagh
SOX9 was added to Cleftingpanel. Sources: UKGTN