Monogenic hearing loss
Gene: PAX3EnsemblGeneIds (GRCh38): ENSG00000135903
EnsemblGeneIds (GRCh37): ENSG00000135903
OMIM: 606597, Gene2Phenotype
PAX3 is in 14 panels
5 reviews
Lampros Mavrogiannis (Leeds Genetics Laboratory)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Maria Bitner-Glindzicz (UCL)
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)
SyndromicCreated: 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 confirmedCreated: 29 Jan 2016, 4:09 p.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- #122880:Craniofacial-deafness-hand syndrome
- #148820:Waardenburg syndrome, type 3
- #193500:Waardenburg syndrome, type 1
- #268220:Rhabdomyosarcoma 2, alveolar
- OMIM
- 606597
- Clinvar variants
- Variants in PAX3
- Penetrance
- Complete
- Publications
-
- 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
- Panels with this gene
-
- Limb disorders
- Sarcoma susceptibility
- DDG2P
- Sarcoma cancer susceptibility
- Structural eye disease
- Monogenic hearing loss
- Skeletal dysplasia
- Fetal anomalies
- Clefting
- Pigmentary skin disorders
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Osteogenesis imperfecta
- Familial rhabdomyosarcoma
- Intellectual disability
History Filter Activity
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
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
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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for PAX3 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
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
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
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
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
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
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