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
- London North GLH
- NHS GMS
- GRID V2.0
- Victorian Clinical Genetics Services
- North West GLH
- ESID Registry 20171117
- NHS GMS
- North West GLH
- London North GLH
- ESID Registry 20171117
- GRID V2.0
- Victorian Clinical Genetics Services
- IUIS Classification February 2018
Phenotypes
- Infections with encapsulated organisms
- Complement Deficiencies
- complement factor B deficiency (AR)
- Atypical Hemolytic-uremic syndrome
- Complement factor B deficiency, 615561
- Susceptibility to atypical haemolytic uraemic syndrome 4 (AD)
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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
- Haemolytic uraemic syndrome
- aHUS
- Hemolytic uremic syndrome, atypical, susceptibility to, 4, 612924
- C3 glomerulopathy
- C3G
- Immune complex MPGN
- IC-MPGN
- MPGN
- Membranoproliferative glomerulonephritis
Tags
- for-review
- to_be_confirmed_NHSE
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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
- NHS GMS
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Hemolytic uremic syndrome, atypical, susceptibility to, 4 612924
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Version 4.201
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- NHS GMS
- North West GLH
- London North GLH
- Expert Review Amber
- ESID Registry 20171117
- GRID V2.0
- Victorian Clinical Genetics Services
- IUIS Classification February 2018
Phenotypes
- Complement factor B deficiency, 615561
- Atypical Hemolytic-uremic syndrome
- Infections with encapsulated organisms
- Complement Deficiencies
- Susceptibility to atypical haemolytic uraemic syndrome 4 (AD)
- complement factor B deficiency (AR)
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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
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Sources
- Expert Review Green
- Expert list
- Expert Review
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
Phenotypes
- Hemolytic uremic syndrome, atypical, susceptibility to, 4 612924
|
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
Phenotypes
- Hemolytic uremic syndrome, atypical, susceptibility to, 4 612924
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.89
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Red
Phenotypes
|
Version 1.184
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Amber
- Expert list
Phenotypes
- ?Complement factor B deficiency, 615561
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