IUGR and IGF abnormalities

Gene: SOX3

Green List (high evidence)

SOX3 (SRY-box 3)
EnsemblGeneIds (GRCh38): ENSG00000134595
EnsemblGeneIds (GRCh37): ENSG00000134595
OMIM: 313430, Gene2Phenotype
SOX3 is in 11 panels

4 reviews

Philip Murray (University of Manchester)

Green List (high evidence)

Peter Clayton (University of Manchester)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: added phenotype
Created: 25 Sep 2017, 2:31 p.m.
Comment on mode of inheritance: Changed from momoallelic to hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males. Gene is encoded on Xq27.1
Created: 25 Sep 2017, 2:29 p.m.

Richard Scott (Genomics England Curator)

Comment on mode of pathogenicity: Whole gene duplications are disease causing
Created: 2 May 2016, 8:37 p.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Panhypopituitarism, X-linked, 312000
  • Mental retardation, X-linked, with isolated growth hormone deficiency, 300123
OMIM
313430
Clinvar variants
Variants in SOX3
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

25 Sep 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SOX3 were set to Panhypopituitarism, X-linked, 312000;Mental retardation, X-linked, with isolated growth hormone deficiency, 300123

25 Sep 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SOX3 were set to Panhypopituitarism, X-linked, 312000

25 Sep 2017, Gel status: 4

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for SOX3 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

2 May 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 May 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for SOX3 were set to 15800844

2 May 2016, Gel status: 4

Set mode of pathogenicity

Richard Scott (Genomics England Curator)

Mode of pathogenicity for SOX3 was changed to Other - please provide details in the comments

2 May 2016, Gel status: 4

Set Mode of Inheritance

Richard Scott (Genomics England Curator)

Mode of inheritance for SOX3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

2 May 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

SOX3 was added to IUGR and IGF abnormalitiespanel. Sources: Emory Genetics Laboratory