Genomics England
GMS Panels
Panels
Genes and Entities

SLC5A5

solute carrier family 5 member 5
OMIM: 601843
PanelMode of inheritanceDetails
2 panels
Green
in Congenital hypothyroidism
R-numbers: R145
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Thyroid dyshormonogenesis 1, 274400, HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1, Apparent athyreosis on nuclear medicine scan, goitre, childhood onset hypothyroidism
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
THYROID HORMONOGENESIS DEFECT I 274400