CLDN19

PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT 248190
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypomagnesemia 5, renal, with ocular involvement 248190
R-numbers: R256
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hypomagensemia with nephrocalcinosis, Hypomagnesemia 5, renal, with ocular involvement
R-numbers: R198
Signed-off version 2.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypomagnesemia 5, renal, with ocular involvement, 248190
R-numbers: R36
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypomagnesemia 5, renal, with ocular involvement, 248190