Differences of Sex Development
Gene: SOX3EnsemblGeneIds (GRCh38): ENSG00000134595
EnsemblGeneIds (GRCh37): ENSG00000134595
OMIM: 313430, Gene2Phenotype
SOX3 is in 10 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Multiple individuals reported; animal model: association is with structural variants, primarily duplications.
Sources: Expert ReviewCreated: 14 Feb 2020, 9:32 p.m.
Mode of inheritance
Other
Phenotypes
XX male sex reversal
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Amber
- Expert Review
- Phenotypes
-
- XX male sex reversal
- Tags
- OMIM
- 313430
- Clinvar variants
- Variants in SOX3
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sox3 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sox3 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SOX3 was added gene: SOX3 was added to Disorders of Sex Differentiation. Sources: Expert Review SV/CNV tags were added to gene: SOX3. Mode of inheritance for gene: SOX3 was set to Other Publications for gene: SOX3 were set to 21183788; 22678921; 25781358; 31523625 Phenotypes for gene: SOX3 were set to XX male sex reversal Mode of pathogenicity for gene: SOX3 was set to Other Review for gene: SOX3 was set to AMBER