RRAGD

Ras related GTP binding D
OMIM: 608268, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green RRAGD in Nephrocalcinosis or nephrolithiasis

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 4.13
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Other
    Phenotypes
    • hypomagnesaemia
    • nephrocalcinosis
    • salt wasting
    • cardiomyopathy
    • tubular renal disease-cardiomyopathy syndrome, MONDO:0019130
    Amber RRAGD in Unexplained young onset end-stage renal disease


    Version 3.40
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • salt wasting
    • tubular renal disease-cardiomyopathy syndrome, MONDO:0019130
    • cardiomyopathy
    • hypomagnesaemia
    • nephrocalcinosis
    Tags
    • Q4_23_promote_green
    Amber RRAGD in Dilated and arrhythmogenic cardiomyopathy

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 2.22
    Latest signed off version: v2.8 (22 Mar 2023)

    Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Literature
    • Expert Review Amber
    Phenotypes
    • hypomagnesaemia
    • cardiomyopathy
    • tubular renal disease-cardiomyopathy syndrome, MONDO:0019130
    Green RRAGD in Renal tubulopathies

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 4.17
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • hypomagnesaemia
    • cardiomyopathy
    • tubular renal disease-cardiomyopathy syndrome, MONDO:0019130
    Green RRAGD in Paediatric or syndromic cardiomyopathy


    Version 3.46
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • hypomagnesaemia
    • cardiomyopathy
    • tubular renal disease-cardiomyopathy syndrome, MONDO:0019130