Pituitary hormone deficiency

Gene: SOX2

Green List (high evidence)

SOX2 (SRY-box 2)
EnsemblGeneIds (GRCh38): ENSG00000181449
EnsemblGeneIds (GRCh37): ENSG00000181449
OMIM: 184429, Gene2Phenotype
SOX2 is in 19 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, 12:05 p.m.
Comment on list classification: Promoted from red to green. The phenotypes for SOX2 are confirmed in both OMIM and Gene2Phenotype. It is a green gene in the IUGR and IGF abnormalities panel (Version 1.25) and Hypogonadotropic hypogonadism panel (Version 1.15). There are >3 unrelated cases of patients with the described phenotypes who have variants in the SOX2 gene. A mouse model (PMID: 16932809) with heterozygous Sox2 knocked out developed combined pituitary hormone deficiency.
Created: 10 Dec 2018, 2:35 p.m.

History Filter Activity

30 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Comment on list classification

8 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: sox2 has been classified as Green List (High Evidence).

10 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: sox2 has been classified as Green List (High Evidence).

10 Dec 2018, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: SOX2 were set to

7 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: SOX2 was added gene: SOX2 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOX2 were set to Microphthalmia, syndromic 3 (206900)