Genomics England
GMS Panels
Panels
Genes and Entities

CLDN16

claudin 16
OMIM: 603959
PanelMode of inheritanceDetails
3 panels
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.29
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypomagnesemia 3, renal, OMIM:248250
Green
in Nephrocalcinosis or nephrolithiasis
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R256
Signed-off version 6.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypomagnesemia 3, renal, OMIM:248250
Green
in Renal tubulopathies
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R198
Signed-off version 6.9
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypomagnesemia 3, renal 248250