Genomics England

claudin 16

Panel	Mode of inheritance	Details
Filter panels3 panels
Green in Likely inborn error of metabolism - targeted testing not possible 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 4.78	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hypomagnesemia 3, renal 248250
Green in Nephrocalcinosis or nephrolithiasis R-numbers: R256 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hypomagnesemia 3, renal
Green in Renal tubulopathies R-numbers: R198 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hypomagnesemia 3, renal 248250