Level 2: Viral research
Version 1.142
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- IUIS Classification December 2022
- IUIS Classification February 2018
- London North GLH
- NHS GMS
- GRID V2.0
- Victorian Clinical Genetics Services
- North West GLH
- ESID Registry 20171117
- Expert Review Green
- NHS GMS
- North West GLH
- London North GLH
- Expert Review Green
- GRID V2.0
- ESID Registry 20171117
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
Phenotypes
- Complement Deficiencies
- Complement component 3 deficiency
- Atypical hemolytic-uremic syndrome, dense deposit disease
- Infections, glomerulonephritis, atypical hemolytic-uremic syndrome with GOF mutations
- C3 deficiency, 613779
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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
- Hemolytic uremic syndrome, atypical, susceptibility to, 5, OMIM:612925
- C3 glomerulopathy
- C3G
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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
- Radboud University Medical Center, Nijmegen
Phenotypes
- Hemolytic uremic syndrome, atypical, susceptibility to, 5, OMIM:612925
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Version 4.202
Latest signed off version: v4.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- North West GLH
- London North GLH
- Expert Review Green
- GRID V2.0
- ESID Registry 20171117
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
Phenotypes
- C3 deficiency, 613779
- Complement component 3 deficiency
- Infections, glomerulonephritis, atypical hemolytic-uremic syndrome with GOF mutations
- Atypical hemolytic-uremic syndrome, dense deposit disease
- Complement Deficiencies
|
Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.119
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
Phenotypes
- C3 deficiency 613779 AR
- {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 AD
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Version 3.41
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
Phenotypes
- C3 deficiency 613779 AR
- {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 AD
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.90
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
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
|