Genomics England

claudin 19

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT 248190
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 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hypomagnesemia 5, renal, with ocular involvement 248190
Green in Nephrocalcinosis or nephrolithiasis Component of the following Super Panels: - Unexplained young onset end-stage renal disease R-numbers: R256 Signed-off version 4.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes hypomagensemia with nephrocalcinosis, Hypomagnesemia 5, renal, with ocular involvement
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 5, renal, with ocular involvement, 248190
Green in Structural eye disease R-numbers: R36 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hypomagnesemia 5, renal, with ocular involvement, 248190