|
Version 1.29
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review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert list
Phenotypes
- Hepatorenocardiac degenerative fibrosis, OMIM:619902
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|
Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 4.9
Latest signed off version: v4.8
(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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Expert list
Phenotypes
- Hepatorenocardiac degenerative fibrosis, OMIM:619902
Tags
- Q2_23_promote_green
- Q2_23_NHS_review
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|
Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Cystic renal disease
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Expert list
Phenotypes
- Hepatorenocardiac degenerative fibrosis, OMIM:619902
|
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Hepatorenocardiac degenerative fibrosis, OMIM:619902
|