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  3. SOX9
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Clefting

Gene: SOX9

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

4 reviews

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
CAMPOMELIC DYSPLASIA

Publications

Created: 26 May 2017, 7:39 a.m.

Panel version: 0.193

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: added additional phenotypes relevant to clefting from curated sources
Created: 8 Feb 2017, 1:43 p.m.
Created: 8 Feb 2017, 1:43 p.m.

Panel version: 0.153

Usha Kini (Oxford Centre for Genomic Medicine)

Green List (high evidence)

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

Created: 8 Dec 2016, 9:44 a.m.

Panel version: 0.31

Ellen McDonagh (Genomics England Curator)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Orofacial Clefting with Skeletal Features; CAMPOMELIC DYSPLASIA; 114290

Created: 12 Sep 2016, 9:14 a.m.

Panel version: 0.28

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • 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
OMIM
608160
Clinvar variants
Variants in SOX9
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

13 Aug 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

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

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: 4

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

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

8 Feb 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SOX9 were set to 7990924;8894698;15806394;24038782;7485151;19449405;12783851

8 Feb 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

8 Feb 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

8 Feb 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

8 Feb 2017, Gel status: 4

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for SOX9 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

8 Feb 2017, Gel status: 4

Upload gene information

Louise Daugherty (Genomics England Curator)

SOX9 was added to Cleftingpanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

12 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SOX9 was created by ellenmcdonagh

12 Sep 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SOX9 was added to Cleftingpanel. Sources: UKGTN