Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.5
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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
Phenotypes
- Rhizomelic Chondrodysplasia Punctata
- Chondrodysplasia punctata, rhizomelic, type 2, 222765
- Rhizomelic chondrodysplasia punctata type 2
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Level 3: Peroxisomal disorders
Level 2: Metabolic disorders
Version 1.19
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review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
Phenotypes
- Rhizomelic chondrodysplasia punctata, type 2 222765
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Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.12
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- UKGTN
Phenotypes
- Confirmed DD gene for Rhizomelic Chondrodysplasia Punctata type 2
- rhizomelic chondrodysplasia punctata type 2 (RCDP2)
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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
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Illumina TruGenome Clinical Sequencing Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Rhizomelic Chondrodysplasia Punctata
- RCDP2
- Rhizomelic chondrodysplasia punctata type 2
- Chondrodysplasia punctata, rhizomelic, type 2, 222765
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Rhizomelic chondrodysplasia punctata type 2 (Peroxisomal disorders)
- Rhizomelic chondrodysplasia punctata, type 2 222765
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Version 4.137
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Rhizomelic chondrodysplasia punctata type 2 (Peroxisomal disorders)
- Rhizomelic chondrodysplasia punctata, type 2 222765
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Version 3.169
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2
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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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 222765
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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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Chondrodysplasia punctata, rhizomelic, type 2, 222765
- RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 (RCDP2)
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Version 3.78
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
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Sources
- Expert Review Red
- London North GLH
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Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Rhizomelic chondrodysplasia punctata, type 2, 222765
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