Level 2: Viral research
Version 1.141
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- IUIS Classification February 2018
- IUIS Classification December 2019
- London North GLH
- NHS GMS
- GRID V2.0
- North West GLH
- Victorian Clinical Genetics Services
- IUIS Classification December 2019
- North West GLH
- London North GLH
- NHS GMS
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- GRID V2.0
Phenotypes
- Atypical hemolytic-uremic syndrome with anti-factor H antibodies
- Atypical hemolytic uremic syndrome susceptibility
- Nephropathy due to CFHR5 deficiency, 614809
- Complement Deficiencies
- Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections
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Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders
Version 3.3
Latest signed off version: v3.0
(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, imprinted status unknown
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Sources
- Expert Review Green
- NHS GMS
- Expert list
Phenotypes
- C3 glomerulopathy
- C3G
- Immune complex MPGN
- IC-MPGN
- Nephropathy due to CFHR5 deficiency, OMIM:614809
- Immune-complex-mediated MPGN
- CFHR5 nephropathy
- Haematuria
- Chronic Kidney Disease
- Proteinuria
- End stage renal disease
Tags
- currently-ngs-unreportable
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Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders
Version 3.3
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Amber
- Expert list
Phenotypes
- Nephropathy due to CFHR5 deficiency, MIM# 614809
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Version 4.196
Latest signed off version: v4.0
(22 Mar 2023)
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- IUIS Classification December 2019
- North West GLH
- London North GLH
- NHS GMS
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- GRID V2.0
Phenotypes
- Complement Deficiencies
- Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections
- Nephropathy due to CFHR5 deficiency, 614809
- Atypical hemolytic-uremic syndrome with anti-factor H antibodies
- Atypical hemolytic uremic syndrome susceptibility
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Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.118
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Expert Review
- Literature
Phenotypes
- C3 glomerulopathy
- C3G
- Immune complex MPGN
- IC-MPGN
- Nephropathy due to CFHR5 deficiency, OMIM:614809
- Immune-complex-mediated MPGN
- CFHR5 nephropathy
- Haematuria
- Chronic Kidney Disease
- Proteinuria
- End stage renal disease
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Version 3.39
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
Phenotypes
- Haematuria
- macroscopic haematuria
- kidney failure
- C3 glomerulopathy
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Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders
Version 2.13
Latest signed off version: v2.4
(15 Oct 2020)
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- NHS GMS
- Expert Review
- Literature
Phenotypes
- Nephropathy due to CFHR5 deficiency OMIM:614809
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Version 1.182
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Nephropathy due to CFHR5 deficiency, 614809
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