Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.34
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review
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Not set
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Sources
- Emory Genetics Laboratory
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Version 4.23
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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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert Review Green
- London South East RGC GSTT
- Viapath
Phenotypes
- Acromesomelic dysplasia, Hunter-Thompson type 201250
- Brachydactyly, type A1, C 615072
- Brachydactyly, type A2 112600
- Brachydactyly, type C 113100
- Chondrodysplasia, Grebe type 200700
- Du Pan syndrome 228900
- Multiple synostoses syndrome 2 610017
- Symphalangism, proximal, 1B 615298
- {Osteoarthritis-5} 612400
- Polydactyly
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.65
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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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Brachydactyly, type C 113100
- Acromesomelic dysplasia, Hunter-Thompson type 201250
- Du Pan syndrome 228900
- {Osteoarthritis-5} 612400
- Chondrodysplasia, Grebe type 200700
- Brachydactyly, type A2 112600
- Brachydactyly, type A1, C 615072
- Symphalangism, proximal, 1B 615298
- Multiple synostoses syndrome 2 610017
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Version 3.169
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- BRACHYDACTYLY TYPE C
- SYMPHALANGISM PROXIMAL SYNDROME
- DU PAN SYNDROME
- BRACHYDACTYLY TYPE A1
- ACROMESOMELIC CHONDRODYSPLASIA HUNTER-THOMPSON TYPE
- ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE
- BRACHYDACTYLY TYPE A2
- MULTIPLE SYNOSTOSES SYNDROME TYPE 2
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Removed
- Emory Genetics Laboratory
Phenotypes
- Disproportionate Short Stature
Tags
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Version 3.90
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- BRACHYDACTYLY TYPE C 113100
- ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE 200700
- ACROMESOMELIC CHONDRODYSPLASIA HUNTER-THOMPSON TYPE 201250
- DU PAN SYNDROME 228900
- SYMPHALANGISM PROXIMAL SYNDROME 185800
- BRACHYDACTYLY TYPE A1 112500
- BRACHYDACTYLY TYPE A2 112600
- MULTIPLE SYNOSTOSES SYNDROME TYPE 2 610017
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.557
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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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- 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
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Version 1.184
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Du Pan syndrome, 228900
- Symphalangism, proximal, 1B, 615298
- Chondrodysplasia, Grebe type, 200700
- Brachydactyly, type A1, C, 615072
- ?Acromesomelic dysplasia, Hunter-Thompson type, 201250
- Multiple synostoses syndrome 2, 610017
- Brachydactyly, type A2, 112600
- Brachydactyly, type C, 113100
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