Version 3.4
Latest signed off version: v3.0
(30 Nov 2022)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- UKGTN
Phenotypes
- Hypophosphatemic rickets, AR (241520)
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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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- Expert
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
Phenotypes
- Multiple synostoses syndrome 2, 610017
- Chondrodysplasia, Grebe type, 200700
- Brachydactyly, type C, 113100
- Hypophosphatemic rickets, AR, 241520
- Brachydactyly, type A1, C, 615072
- Brachydactyly, type A2, 112600
- Acromesomelic dysplasia, Hunter-Thompson type, 201250
- {Osteoarthritis-5}, 612400
- Hypophosphatemic rickets,autosomal recessive,type 1 (ARHR1)
- skeletal dysplasias
- Osteogenesis Imperfecta and Decreased Bone Density
- Du Pan syndrome, 228900
- Symphalangism, proximal, 1B, 615298
- Hypophosphatemic rickets, AR, 241520
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Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- HYPOPHOSPHATEMIC RICKETS, AR
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
Not set
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Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Expert
Phenotypes
- Osteogenesis Imperfecta and Decreased Bone Density
- skeletal dysplasias
- Acromesomelic dysplasia, Hunter-Thompson type, 201250
- Brachydactyly, type C, 113100
- Chondrodysplasia, Grebe type, 200700
- Du Pan syndrome, 228900
- Brachydactyly, type A2, 112600
- Symphalangism, proximal, 1B, 615298
- Multiple synostoses syndrome 2, 610017
- {Osteoarthritis-5}, 612400
- Brachydactyly, type A1, C, 615072
- Hypophosphatemic rickets, AR, 241520
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Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- HYPOPHOSPHATEMIC RICKETS, AR 241520
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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
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Hypophosphatemic rickets, AR, 241520
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Version 1.182
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Hypophosphatemic rickets, AR, 241520
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