IUGR and IGF abnormalities
Gene: SOX3

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)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Peter Clayton (University of Manchester)

Green List (high evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

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.

Created: 25 Sep 2017, 2:28 p.m.

Panel version: 1.19

Richard Scott (Genomics England Curator)

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

Created: 2 May 2016, 8:37 p.m.

Panel version: 0.202

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

Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123
Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252
Panhypopituitarism, X-linked, OMIM:312000
Panhypopituitarism, X-linked, MONDO:0010712

OMIM

313430

Clinvar variants

Variants in SOX3

Penetrance

Complete

Publications

15800844

Mode of Pathogenicity

Other - please provide details in the comments

Panels with this gene

History Filter Activity

7 Dec 2020, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SOX3 were changed from Panhypopituitarism, X-linked, 312000; Mental retardation, X-linked, with isolated growth hormone deficiency, 300123 to Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252; Panhypopituitarism, X-linked, OMIM:312000; Panhypopituitarism, X-linked, MONDO:0010712

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