|
Level 2: Viral research
Version 1.142
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- IUIS Classification February 2018
- London North GLH
- NHS GMS
- Inherited complement deficiency v0.11
- GRID V2.0
- Victorian Clinical Genetics Services
- North West GLH
- ESID Registry 20171117
- Expert Review Green
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- ESID Registry 20171117
- GRID V2.0
- Inherited complement deficiency v0.11
Phenotypes
- Complement Deficiencies
- Complement factor H deficiency, 609814
- Infections, disseminated neisserial infections, atypical Hemolytic-uremic syndrome, preeclampsia, dense deposit disease
|
|
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Expert list
Phenotypes
- C3 glomerulopathy
- C3G
- Immune complex MPGN
- IC-MPGN
- Hemolytic uremic syndrome, atypical, susceptibility to, 1, 235400
- Dense Deposit Disease
- Membranoproliferative Glomerulonephritis Type II
- Immune-complex-mediated MPGN
Tags
- for-review
- to_be_confirmed_NHSE
|
|
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
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
Phenotypes
- Hemolytic uremic syndrome, atypical, susceptibility to, 1 235400
|
|
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- ESID Registry 20171117
- GRID V2.0
- Inherited complement deficiency v0.11
Phenotypes
- Complement factor H deficiency, 609814
- Infections, disseminated neisserial infections, atypical Hemolytic-uremic syndrome, preeclampsia, 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
- UKGTN
- Expert list
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Complement factor H deficiency 609814
- {Hemolytic uremic syndrome, atypical, susceptibility to, 1} 235400
|
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
Phenotypes
- {Hemolytic uremic syndrome, atypical, susceptibility to, 1} 235400
- Complement factor H deficiency 609814
|
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 5.4
Latest signed off version: v5.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- {Macular degeneration, age-related, 4} 610698
- Basal laminar drusen, 126700
|
|
Version 1.184
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Basal laminar drusen, 126700
- Complement factor H deficiency, 609814
|