Monogenic hearing loss
Gene: SLC26A4EnsemblGeneIds (GRCh38): ENSG00000091137
EnsemblGeneIds (GRCh37): ENSG00000091137
OMIM: 605646, Gene2Phenotype
SLC26A4 is in 4 panels
5 reviews
Ellen McDonagh (Genomics England Curator)
New review confirms gene status and mode of inheritance; no changes required.Created: 1 Jun 2018, 2:43 p.m.
Lampros Mavrogiannis (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Maria Bitner-Glindzicz (UCL)
Jun Shen (Harvard Medical School)
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
- 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
Damian Smedley (Genomics England Curator)
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 4:22 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Expert
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Nonsyndromic Hearing Loss, Recessive
- Pendred syndrome, 274600
- hearing loss
- Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791
- enlarged vestibular aqueducts
- OMIM
- 605646
- Clinvar variants
- Variants in SLC26A4
- Penetrance
- Complete
- Publications
-
- 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
- Panels with this gene
History Filter Activity
Set Phenotypes
Ellen McDonagh (Genomics England Curator)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
Set publications
Ellen McDonagh (Genomics England Curator)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
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)SLC26A4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Eligibility statement prior genetic testing
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SLC26A4 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SLC26A4 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SLC26A4 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SLC26A4 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)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
Added New Source
Ellen McDonagh (Genomics England Curator)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