Pituitary hormone deficiency
Gene: SOX3

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

1 review

Ivone Leong (Genomics England Curator)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 29 Jan 2019, 12:06 p.m.

Comment on list classification: Promoted from red to green. SOX3 is confirmed to be associated with Mental retardation, X-linked, with isolated growth hormone deficiency and X-linked panhypopituitarism in OMIM and Gene2Phenotype. It is also a green gene in IUGR and IGF abnormalities panel (Version 1.25). There are >3 unrelated cases of patients with growth hormone deficiency who have variants in SOX3.
Created: 10 Dec 2018, 2:52 p.m.

Created: 10 Dec 2018, 2:52 p.m.

Panel version: 0.71

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green
Radboud University Medical Center
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

None

Publications

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

30 Jan 2019, Gel status: 3