Monogenic hearing loss
Gene: PAX3
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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.
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]
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 4:09 p.m.
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
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
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
Mode of inheritance for PAX3 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene PAX3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PAX3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene PAX3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PAX3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene PAX3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PAX3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Expert
PAX3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Expert