Genomics England
GMS Panels
Panels
Genes and Entities

RRAGD

Ras related GTP binding D
OMIM: 608268
PanelMode of inheritanceDetails
4 panels
Green
in Nephrocalcinosis or nephrolithiasis
R-numbers: R256
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hypomagnesaemia, nephrocalcinosis, salt wasting, cardiomyopathy, tubular renal disease-cardiomyopathy syndrome, MONDO:0019130
Green
in Paediatric or syndromic cardiomyopathy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hypomagnesaemia, cardiomyopathy, tubular renal disease-cardiomyopathy syndrome, MONDO:0019130
Green
in Renal tubulopathies
R-numbers: R198
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hypomagnesaemia, cardiomyopathy, tubular renal disease-cardiomyopathy syndrome, MONDO:0019130
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
salt wasting, tubular renal disease-cardiomyopathy syndrome, MONDO:0019130, cardiomyopathy, hypomagnesaemia, nephrocalcinosis