SLC26A4

solute carrier family 26 member 4
OMIM: 605646, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Red SLC26A4 in Familial Meniere Disease Level 3: Other hearing and ear disorders Level 2: Hearing and ear disorders Version 1.4	review	Not set	Sources Literature
Green SLC26A4 in Deafness and congenital structural abnormalities Level 3: Deafness and congenital structural abnormalities Level 2: Hearing and ear disorders Version 1.37	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Eligibility statement prior genetic testing Phenotypes Deafness,autosomal recessive 4,with enlarged vestibular aqueduct,600791
Green SLC26A4 in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	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
Green SLC26A4 in Congenital hypothyroidism Level 2: Endocrinology Version 3.3 Latest signed off version: v3.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing Other Phenotypes Pendred syndrome, 274600 (congenital deafness and thyroid goitre) Sensorineural deafness enlarged vestibular aqueduct Mondini defect partial iodide organification defect goitre mild hypothyroidism Tags treatable monogenic-polygenic