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
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- NHS GMS
- Expert Review Green
- Other
Phenotypes
- hypomagnesaemia
- nephrocalcinosis
- salt wasting
- cardiomyopathy
- tubular renal disease-cardiomyopathy syndrome, MONDO:0019130
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- salt wasting
- tubular renal disease-cardiomyopathy syndrome, MONDO:0019130
- cardiomyopathy
- hypomagnesaemia
- nephrocalcinosis
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Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 2.25
Latest signed off version: v2.23
(1 May 2024)
Component of the following Super Panels:
Sudden unexplained death or survivors of a cardiac event
Unexplained death in infancy and sudden unexplained death in childhood
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review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Literature
- Expert Review Amber
Phenotypes
- hypomagnesaemia
- cardiomyopathy
- tubular renal disease-cardiomyopathy syndrome, MONDO:0019130
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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
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
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
|