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Hearing loss

Gene: PAX3

Green List (high evidence)

PAX3 (paired box 3)
EnsemblGeneIds (GRCh38): ENSG00000135903
EnsemblGeneIds (GRCh37): ENSG00000135903
OMIM: 606597, Gene2Phenotype
PAX3 is in 15 panels

5 reviews

Lampros Mavrogiannis (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

New review confirms gene status and mode of inheritance; no changes required.
Created: 1 Jun 2018, 2:49 p.m.
Comment on mode of inheritance: Changed from monoallelic to both, as there are cases where homozygous mutations can cause Waardenburg syndrome type 3 (refer to OMIM for more details).
Created: 17 Feb 2016, 5:29 p.m.

Jun Shen (Harvard Medical School)

Green List (high evidence)

Syndromic
Created: 17 Feb 2016, 6:23 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
#122880:Craniofacial-deafness-hand syndrome[Flat facial profile; Hypertelorism; Hypoplastic nose; Slitlike nares; Sensorineural hearing loss; Ulnar deviation of hands; Small maxilla; Absent or small nasal bones]; #148820:Waardenburg syndrome, type 3[Prognathism; Sensorineural deafness; Dystopia canthorumBlepharophimosisSynophrysHeterochromia iridis (complete or partial)Hypopigmented irisBright blue eyes; Prominent nasal rootHypoplastic alae; Contractures of the upper limb jointsHypoplasia of the bones of the upper limbs and wrists; Syndactyly, cutaneousFinger contracturesHypoplasia of the hand musclesClinodactylyBrachydactyly; Syndactyly; Congenital partial albinism (leukoderma) on face, trunk, or limbsHypopigmented skin patches; White forelockPremature graying of the hair; Mental retardation (reported in 1 patient)Spasticity (reported in 1 patient)]; #193500:Waardenburg syndrome, type 1[Smooth philtrumDecreased philtrum length; Congenital sensorineural deafness; Laterally displaced inner canthi (dystopia canthorum) (95 to 99%)Increased intercanthal distanceBlepharophimosisHypertelorismHeterochromia iridis, complete or partialHypoplastic iris stomaHypopigmented ocular fundusBright blue iridesSynophrysLower lacrimal dystopia; Broad, high nasal rootWide nasal bridgeHypoplastic alae nasiDecreased nasal bone length; Cleft lip/palateMandibular prognathism; Supernumerary ribs; Absent vagina (rare); Absent uterine adnexa (rare); Aplasia of posterior semicircular canal on CT scan; Sprengel anomalySupernumerary vertebrae; Congenital partial albinism (leukoderma) on face, trunk, or limbsHypopigmented skin lesions; White forelockWhite eyelashes and eyebrowsBushy eyebrowsPremature graying of hair; Spina bifida (less common)Myelomeningocele (less common)]; #268220:Rhabdomyosarcoma 2, alveolar[Alveolar rhabdomyosarcoma]

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Expert review and OMIM confirmed
Created: 29 Jan 2016, 4:09 p.m.

History Filter Activity

14 Aug 2017, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PAX3 were set to PMID:20301703; 10521655; 10557309; 10699180; 10942418; 11262400; 11683776; 12242297; 12594042; 12668617; 12949970; 1303187; 1303193; 1303207; 1303254; 1308353; 1347148; 1347149; 14665670; 1536170; 1552554; 15729346; 15843801; 1682057; 17986608; 1887852; 2022185; 2045114; 20478267; 21965087; 2501086; 2596512; 2785681; 3819023; 5907833; 6859126; 7091186; 7545913; 7573125; 7630639; 7726174; 7782066; 7852195; 7862145; 7897628; 7942851; 8098985; 8234293; 8275086; 8322830; 8421686; 8423616; 8431641; 8447316; 8490648; 8533800; 8589691; 8664898; 8782819; 8786127; 8790412; 8799378; 9302254; 9500554

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PAX3 were set to #122880:Craniofacial-deafness-hand syndrome; #148820:Waardenburg syndrome, type 3; #193500:Waardenburg syndrome, type 1; #268220:Rhabdomyosarcoma 2, alveolar

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PAX3 were set to PMID:10521655; 10557309; 10699180; 10942418; 11262400; 11683776; 12242297; 12594042; 12668617; 12949970; 1303187; 1303193; 1303207; 1303254; 1308353; 1347148; 1347149; 14665670; 1536170; 1552554; 15729346; 15843801; 1682057; 17986608; 1887852; 2022185; 2045114; 20478267; 21965087; 2501086; 2596512; 2785681; 3819023; 5907833; 6859126; 7091186; 7545913; 7573125; 7630639; 7726174; 7782066; 7852195; 7862145; 7897628; 7942851; 8098985; 8234293; 8275086; 8322830; 8421686; 8423616; 8431641; 8447316; 8490648; 8533800; 8589691; 8664898; 8782819; 8786127; 8790412; 8799378; 9302254; 9500554

17 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PAX3 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

29 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: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PAX3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PAX3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PAX3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PAX3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PAX3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PAX3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PAX3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Expert