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Hearing loss

Gene: SOX10

Green List (high evidence)

SOX10 (SRY-box 10)
EnsemblGeneIds (GRCh38): ENSG00000100146
EnsemblGeneIds (GRCh37): ENSG00000100146
OMIM: 602229, Gene2Phenotype
SOX10 is in 16 panels

5 reviews

Ellen McDonagh (Genomics England Curator)

New review confirms gene status and mode of inheritance; no changes required.
Created: 1 Jun 2018, 2:41 p.m.

Lampros Mavrogiannis (Leeds Genetics Laboratory)

Green List (high evidence)

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

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Jun Shen (Harvard Medical School)

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

Phenotypes
#609136:PCWH syndrome[Deafness, sensorineuralAbsent brainstem auditory responsesEnlarged vestibuleSmall cochleaAbnormally shaped cochlea; Heterochromia iridisBright blue eyesAlacrimaNystagmus; Olfactory bulb agenesisAnosmia; Parotid gland hypoplasia; Hirschsprung disease, long-segmentDecreased myenteric and submucosal ganglia in the bowelIntestinal aganglionosisChronic intestinal pseudoobstruction; Cryptorchidism; Vestibular malformation seen on temporal bone CT (in some patients)Hypoplasia of the semicircular canals; Pes cavus; Hypopigmented skin patches; White forelockWhite eyelashesWhite eyebrows; Developmental delayMental retardationNeonatal hypotoniaDysmyelinationSpastic paraparesisSpastic quadriplegiaAtaxiaNystagmusAutonomic dysregulation; Demyelinating peripheral neuropathyAreflexiaHyporeflexiaDistal muscle wasting due to peripheral neuropathyDistal muscle weakness due to peripheral neuropathyDecreased nerve conduction velocities (NCV)Distal sensory impairmentSural nerve biopsy shows hypomyelination/demyelinationSural nerve biopsy shows excessive focal folding of myelin sheaths]; #611584:Waardenburg syndrome, type 2E, with or without neurologic involvement[Deafness, sensorineuralAbsence of the cochlear nerves (reported in 1 patient)Hypoplasia or agenesis of the semicircular canalsVestibular malformationDilatation of the vestibuleSmall cochleaAbnormally shaped cochlea; Hypopigmented iridesHypoplastic iridesBright blue eyesOcular albinism (reported in 1 patient)Retinal hypopigmentationNystagmus; Absence of the olfactory bulbs (reported in 1 patient)Anosmia (in some patients); Delayed deciduous tooth eruption (reported in 1 patient)Large central incisors (reported in 1 patient)Irregularly placed dentition (reported in 1 patient); Pectus excavatum; Bilateral temporal bone abnormalities; Hypopigmented skin patchesCafe-au-lait spotsFreckles; White forelockWhite eyelashesWhite eyebrowsPremature graying; A subset of patients have neurologic abnormalitiesDelayed psychomotor developmentMental retardationAxial hypotoniaIncreased muscle toneBrain hypomyelinationAbsence of olfactory bulbs (in some patients)]; #613266:Waardenburg syndrome, type 4C[Deafness, sensorineuralHypoplasia or agenesis of the semicircular canalsEnlarged vestibuleSmall cochleaAbnormally shaped cochlea; Heterochromia iridisBright blue iridesLacrimal gland hypoplasia (in some patients); Anosmia (in some patients); Parotid gland hypoplasia (in some patients); Hirschsprung diseaseDecreased myenteric and submucosal ganglia in the bowel; CryptorchidismHypogonadism; Bilateral temporal bone abnormalities; Hypopigmented skin patches; White forelockWhite eyelashesWhite eyebrowsPremature graying; Olfactory bulb agenesis (in some patients)]

Publications

Damian Smedley (Genomics England Curator)

Comment on list classification: Good evidence from expert reviewer and OMIM
Created: 31 Jan 2016, 7:59 p.m.

History Filter Activity

22 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SOX10 were set to Waardenburg syndrome, type 4C, 613266; #609136:PCWH syndrome; #611584:Waardenburg syndrome, type 2E, with or without neurologic involvement

22 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SOX10 were set to PMID:10077527; 10441344; 10482261; 10762540; 10942418; 10973953; 10982026; 11026454; 11734543; 12036907; 12189494; 12417529; 12447940; 12668617; 12920301; 15004559; 15294878; 15843399; 16256735; 1636383; 16684879; 17855451; 17999358; 18348267; 18348274; 18397875; 18627047; 19179536; 19208381; 19764030; 19933217; 20308050; 20478267; 21965087; 23643381; 6512238; 8441686; 8911608; 8918474; 8921394; 9027489; 9412504; 9425902; 9462749; 9560246; 9644970; 9722528; 9760192

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 SOX10 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: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SOX10 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SOX10 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SOX10 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert