Monogenic hearing loss
Gene: SLC26A4New review confirms gene status and mode of inheritance; no changes required.Created: 1 Jun 2018, 2:43 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#274600:Pendred syndrome[Congenital neurosensory deafnessVestibular function defect (decreased in some, normal in other patients)Cochlear malformation; Goiter; EuthyroidHypothyroidCompensated hypothyroidism; Thyroid hormone organification defect]; #600791:Deafness, autosomal recessive 4, with enlarged vestibular aqueduct[Hearing loss, sensorineuralVestibular abnormalities (variable)Enlarged vestibular aqueductCochlear malformation defect (Mondini dysplasia) (less common)]
Publications
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 4:22 p.m.
Phenotypes for SLC26A4 were set to Nonsyndromic Hearing Loss, Recessive; Pendred syndrome, 274600; hearing loss; Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791; enlarged vestibular aqueducts
Publications for SLC26A4 were set to PMID:10190331; 10192399; 10404839; 10449762; 10571950; 10602116; 10843192; 10861298; 10878664; 10902795; 11152663; 11274445; 11317356; 11932316; 12107249; 12354788; 12642503; 12676893; 12727986; 12788906; 12920581; 12974744; 14508505; 15531480; 15679828; 15689455; 16260629; 16570074; 17443271; 17503324; 17690912; 17718863; 17940114; 18285825; 18310264; 19204907; 19287372; 19426954; 20442411; 22139968; 8541853; 9302427; 9398842; 9500541; 9618166; 9618167; 9729124; 9920104
This gene has been classified as Green List (High Evidence).
SLC26A4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene SLC26A4 was changed to BIALLELIC, autosomal or pseudoautosomal
SLC26A4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene SLC26A4 was changed to BIALLELIC, autosomal or pseudoautosomal
SLC26A4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene SLC26A4 was changed to BIALLELIC, autosomal or pseudoautosomal
SLC26A4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene SLC26A4 was changed to BIALLELIC, autosomal or pseudoautosomal
SLC26A4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
SLC26A4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert