Version 3.5
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
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Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 4.24
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Cystic renal disease
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 Amber
- Other
Phenotypes
- Cystic kidney disease, MONDO:0002473
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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
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Alport syndrome 2, autosomal recessive, OMIM:203780
- Hematuria,familial benign, OMIM:141200
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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
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
Phenotypes
- Alport syndrome 2, autosomal recessive, OMIM:203780
- Hematuria,familial benign, OMIM:141200
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Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- ALPORT SYNDROME AUTOSOMAL RECESSIVE
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Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- ALPORT SYNDROME AUTOSOMAL RECESSIVE 203780
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Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.26
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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Not set
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Sources
- Expert
- Radboud University Medical Center, Nijmegen
Phenotypes
- Alport syndrome 2, autosomal recessive, OMIM:203780
- Hematuria,familial benign, OMIM:141200
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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
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review
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Alport syndrome 2, autosomal recessive OMIM:203780
- Hematuria, familial benign OMIM:141200
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Alport syndrome 2, autosomal recessive, OMIM:203780
- Hematuria,familial benign, OMIM:141200
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Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders
Version 4.7
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
Phenotypes
- Alport syndrome 2, autosomal recessive, OMIM:203780
- Hematuria,familial benign, OMIM:141200
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Version 0.8
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert review green
- Literature
Phenotypes
- MIM 203780
- Hypertensive nephropathy
- Congenital or cystic renal disease
- Nephropathy of unknown origin
- Glomerulopathy
- Thin basement membrane disease
- Alport syndrome, autosomal dominant/recessive
- 141200
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Version 1.182
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Hematuria, familial benign, 141200
- Alport syndrome 2, autosomal recessive, 203780
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