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
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
25 Sep 2017, 2:29 p.m.

Richard Scott (Genomics England Curator)

Comment on mode of pathogenicity: Whole gene duplications are disease causing
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