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Clefting disorders

Gene: SOX9

Green List (high evidence)

SOX9 (SRY-box 9)
EnsemblGeneIds (GRCh38): ENSG00000125398
EnsemblGeneIds (GRCh37): ENSG00000125398
OMIM: 608160, Gene2Phenotype
SOX9 is in 10 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • CAMPOMELIC DYSPLASIA,114290
  • Campomelic dysplasia with autosomal sex reversal, 114290
  • CAMPOMELIC DYSPLASIA
  • Cleft palate
  • Cleft palate with skeletal abnormalities
  • Orofacial Clefting with Skeletal Features
  • Acampomelic campomelic dysplasia, 114290
OMIM
608160
Clinvar variants
Variants in SOX9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Sep 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SOX9 was added gene: SOX9 was added to Clefting_GEL. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: SOX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOX9 were set to 7485151; 7990924; 24038782; 12783851; 19449405; 15806394; 8894698 Phenotypes for gene: SOX9 were set to CAMPOMELIC DYSPLASIA,114290; Campomelic dysplasia with autosomal sex reversal, 114290; CAMPOMELIC DYSPLASIA; Cleft palate; Cleft palate with skeletal abnormalities; Orofacial Clefting with Skeletal Features; Acampomelic campomelic dysplasia, 114290