Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Hearing loss

Gene: SOX2

Green List (high evidence)

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

5 reviews

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Limited evidence for green rating. Should be reviewed at the next major review of this panel.
Created: 11 Sep 2020, 1:14 p.m. | Last Modified: 11 Sep 2020, 1:14 p.m.
Panel Version: 2.65
Associated with Microphthalmia, syndromic 3/Optic nerve hypoplasia and abnormalities of the central nervous system #206900 (AD) in OMIM which has hearing loss listed as one of the clinical features.

Summary: 2 individuals (1 in Zhang, 1 in Hagstrom) reported with hearing loss but the optic phenotype is far more predominant.

PMID: 30262714 - Zhang et al 2018 - report a Chinese infant with bilateral clinical anophthalmia and sensorineural hearing loss and a de novo 20bp deletion in SOX2 ( c.70_89del (p. Asn24ArgfsX65; rs398123693)) was identified in targeted sequencing of this gene. This variant has been previously reported in 13 patients from 12 unrelated pedigrees but this is the first time hearing loss has been reported.

PMID: 16932809 - Kelberman et al 2006 - Mouse model - heterozygous mice with a targeted disruption of Sox2 did not manifest eye defects, but showed abnormal anterior pituitary development with reduced levels of growth hormone, luteinizing hormone, and thyroid-stimulating hormone. Also report 8 individuals (from a cohort of 235 patients) screened for variants in SOX2. Hearing loss not reported in these patients.

16145681 - Hagstrom et al 2005 - surveyed 93 patients with severe eye malformations for mutations in SOX2. They report one female patient with bilateral clinical anophthalmia, absence of all optic pathways, as well as modest bilateral sensorineural hearing loss, and global developmental delay. She was heterozygous for a de novo c.463C > T alteration, which predicts p.Q155X.
Created: 11 Sep 2020, 1:10 p.m. | Last Modified: 11 Sep 2020, 1:10 p.m.
Panel Version: 2.63

Zornitza Stark (Australian Genomics)

I don't know

3 individuals with deafness as part of the phenotype but the majority do not have hearing loss. SOX2 mouse models but can't find evidence that hearing was studied/impaired.
Created: 29 Jan 2020, 7:02 a.m. | Last Modified: 29 Jan 2020, 7:02 a.m.
Panel Version: 2.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Microphthalmia, syndromic 3, MIM# 206900

Publications

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Jun Shen (Harvard Medical School)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#206900:Optic nerve hypoplasia and abnormalities of the central nervous system[Short stature; Growth failure, postnatal; Microcephaly; Frontal bossing; Hearing loss, sensorineural; MicrophthalmiaAnophthalmia, clinicalOptic nerve hypoplasiaColoboma; Multiple supernumerary teeth (rare); Ventricular septal defect; Patent ductus arteriosus; Absent ribsExtra ribsFused ribs; Esophageal atresia; HypospadiasMicropenis; Cryptorchidism; HemivertebraeUnderdeveloped vertebraeFused vertebraeButterfly vertebrae; Reduction of white matter, generalizedHypothalamic hamartomaMesial temporal brain malformationsAgenesis of corpus callosumHypoplasia of corpus callosumAnterior pituitary hypoplasiaLearning difficultiesPsychomotor delayHypotoniaSpastic diplegiaSpastic quadriplegia; Anterior pituitary hypoplasiaHypogonadotropic hypogonadism; Caused by mutation in the SRY (sex determining region Y)-box 2 gene (SOX2,)]

Publications

Damian Smedley (Genomics England Curator)

Comment on list classification: Good evidence from expert reviewer and OMIM
Created: 31 Jan 2016, 8:04 p.m.

History Filter Activity

11 Sep 2020, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag for-review tag was added to gene: SOX2.

11 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

11 Sep 2020, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: SOX2 were set to PMID:10564870; 11135495; 12002146; 12036291; 12461687; 12612584; 14517545; 15240551; 15346919; 15389708; 15812812; 15846349; 16145681; 16283891; 16470798; 16543359; 16651659; 16712695; 16892407; 16904174; 16932809; 17015430; 17219395; 17515932; 17522155; 17554336; 17554338; 18029452; 18157115; 18285410; 18385377; 18806776; 18818365; 18831064; 18845712; 19254784; 19403656; 19801978; 19898493; 19921648; 20803647; 21326281; 21331042; 21532573; 21919124; 24048479; 24909994; 7849401; 8741917

22 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SOX2 were set to #206900:Optic nerve hypoplasia and abnormalities of the central nervous system; Hearing loss, sensorineural

22 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SOX2 were set to PMID:10564870; 11135495; 12002146; 12036291; 12461687; 12612584; 14517545; 15240551; 15346919; 15389708; 15812812; 15846349; 16145681; 16283891; 16470798; 16543359; 16651659; 16712695; 16892407; 16904174; 16932809; 17015430; 17219395; 17515932; 17522155; 17554336; 17554338; 18029452; 18157115; 18285410; 18385377; 18806776; 18818365; 18831064; 18845712; 19254784; 19403656; 19801978; 19898493; 19921648; 20803647; 21326281; 21331042; 21532573; 21919124; 24048479; 24909994; 7849401; 8741917

31 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

31 Jan 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for SOX2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

31 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SOX2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert