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Hearing loss

Gene: SOX2

Green List (high evidence)

SOX2 (SRY-box 2)
EnsemblGeneIds (GRCh38): ENSG00000181449
EnsemblGeneIds (GRCh37): ENSG00000181449
OMIM: 184429, Gene2Phenotype
SOX2 is in 18 panels

3 reviews

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

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