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DDG2P

Gene: SOX9

Green List (high evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed (for all listed disorders). Multiple MOPs in DD-G2P download: cis-regulatory or promotor mutation, loss of function.
Created: 19 Nov 2018, 11:31 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PIERRE ROBIN SEQUENCE
  • CAMPOMELIC DYSPLASIA 114290
OMIM
608160
Clinvar variants
Variants in SOX9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes CAMPOMELIC DYSPLASIA 114290 for gene: SOX9 Publications for gene SOX9 were changed from to 11754051; 7990924; 12783851; 7485151; 11076045; 19449405; 11323423; 10951468; 8001137; 8894698

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: SOX9 was added gene: SOX9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SOX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOX9 were set to PIERRE ROBIN SEQUENCE