SLC26A4

solute carrier family 26 member 4
OMIM: 605646, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green SLC26A4 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 600791 Pendred syndrome 274600
Green SLC26A4 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, MIM#600791 Pendred syndrome, MIM#274600
Green SLC26A4 in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.63	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Deafness Flagship Phenotypes Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, MIM#600791 Pendred syndrome, MIM#274600
Green SLC26A4 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Pendred syndrome
Green SLC26A4 in Congenital hypothyroidism Level 3: Thyroid disorders Level 2: Endocrine disorders Version 0.43	review	BIALLELIC, autosomal or pseudoautosomal	Sources Genomics England PanelApp Expert Review Green Phenotypes enlarged vestibular aqueduct Sensorineural deafness partial iodide organification defect mild hypothyroidism Pendred syndrome, 274600 (congenital deafness and thyroid goitre) goitre Mondini defect
Red SLC26A4 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Pendred syndrome - MIM#274600
Red SLC26A4 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Deafness, autosomal recessive 4, with enlarged vestibular aqueduct (MIM#600791) Pendred syndrome (MIM#274600)
Green SLC26A4 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 600791 Pendred syndrome 274600 Tags deafness