Genomics England

claudin 16

Panel	Mode of inheritance	Details
Filter panels3 panels
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 5.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hypomagnesemia 3, renal 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 4.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hypomagnesemia 3, renal
Green in Renal tubulopathies Component of the following Super Panels: - Unexplained young onset end-stage renal disease R-numbers: R198 Signed-off version 4.18	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hypomagnesemia 3, renal 248250