Genomics England
GMS Panels
Panels
Genes and Entities

SLC26A4

solute carrier family 26 member 4
OMIM: 605646
PanelMode of inheritanceDetails
2 panels
Green
in Congenital hypothyroidism
R-numbers: R145
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pendred syndrome, 274600 (congenital deafness and thyroid goitre), Sensorineural deafness, enlarged vestibular aqueduct, Mondini defect, partial iodide organification defect, goitre, mild hypothyroidism
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nonsyndromic Hearing Loss, Recessive, Pendred syndrome, 274600, hearing loss, Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791, enlarged vestibular aqueducts