Version 3.4
Latest signed off version: v3.0
(30 Nov 2022)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- Literature
Phenotypes
- Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (612286)
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Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 4.13
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
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286
- Hypophosphatemic Nephrolithiasis/Osteoporosis
- Hypophosphatemic Nephrolithiasis/Osteoporosis (recessive)
- Nephrolithiasis with osteoporosis and hypophosphatemia
- Nephrolithiasis with osteoporosis and hypophosphatemia
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Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118
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review
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Not set
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Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286
- Fanconi renotubular syndrome 2, 613388
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.54
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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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- Other
Phenotypes
- Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286
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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
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Amber
Phenotypes
- Nephrolithiasis with osteoporosis and hypophosphatemia
- Hypophosphatemic Nephrolithiasis/Osteoporosis (recessive)
- Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286
- Hypophosphatemic Nephrolithiasis/Osteoporosis
Tags
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Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 4.17
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, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- NHS GMS
Phenotypes
- Hypercalcemia, infantile, 2, MIM 616963
- Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286
- ?Fanconi renotubular syndrome 2 613388
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