Version 3.19
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: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.119
Component of the following Super Panels:
Renal superpanel - broad
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review
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BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Eligibility statement prior genetic testing
Phenotypes
- Alport syndrome, autosomal recessive, 203780
- Hematuria, benign familial, 141200
- Alport syndrome, autosomal dominant, 104200
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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
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review
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BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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Sources
Phenotypes
- Alport syndrome, autosomal recessive, 203780
- Alport syndrome, autosomal dominant, 104200
- Hematuria, benign familial, 141200
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Version 3.157
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- ALPORT SYNDROME AUTOSOMAL RECESSIVE
- ALPORT SYNDROME AUTOSOMAL DOMINANT
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Version 3.87
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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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- ALPORT SYNDROME AUTOSOMAL RECESSIVE, OMIM:203780
- ALPORT SYNDROME AUTOSOMAL DOMINANT, OMIM:104200
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Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.38
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, autosomal recessive, 203780Hematuria, benign familial, 141200Alport syndrome, autosomal dominant, 104200
- Alportsyndrome,autosomalrecessive,203780Hematuria,benignfamilial,141200Alportsyndrome,autosomaldominant,104200
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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
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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, autosomal dominant OMIM:104200
- Alport syndrome, autosomal recessive OMIM:203780
- Hematuria, benign familial OMIM:141200
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.536
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, autosomal recessive, 203780
- Hematuria, benign familial, 141200
- Alport syndrome, autosomal dominant, 104200
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Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders
Version 4.12
Latest signed off version: v4.0
(22 Mar 2023)
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
Phenotypes
- Alport syndrome, autosomal dominant #104200
- Alport syndrome, autosomal recessive #203780
- Hematuria, benign familial #141200
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Version 0.8
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- Expert review green
- Literature
Phenotypes
- Hypertensive nephropathy
- MIM 104200, 203780
- 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 1.184
|
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
- Alport syndrome 2, autosomal recessive, 203780
- Alport syndrome 3, autosomal dominant, 104200
- Hematuria, benign familial, 141200
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