Hypogonadotropic hypogonadism (GMS)

Gene: SOX2

Amber List (moderate evidence)

SOX2 (SRY-box 2)
EnsemblGeneIds (GRCh38): ENSG00000181449
EnsemblGeneIds (GRCh37): ENSG00000181449
OMIM: 184429, Gene2Phenotype
SOX2 is in 19 panels

2 reviews

Simon Thomas (Wessex Regional Genetics Laboratory)

Red List (low evidence)

Single green review. Hypoplasia of the anterior pituitary frequently results in gonadotropin deficiency. However, this also causes growth hormone deficiency and the major clinical association for SOX2 is with eye abnormalities.
Created: 22 Mar 2019, 5:03 p.m.

Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

Green List (high evidence)

History Filter Activity

22 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: sox2 has been classified as Amber List (Moderate Evidence).

22 Mar 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source Wessex and West Midlands GLH was added to SOX2.

15 Mar 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Added phenotypes Syndromic Microphthalmia type 3 (OMIM 206900) for gene: SOX2

15 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: SOX2 was added gene: SOX2 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted