Level 3: Structural lung disorders
Level 2: Respiratory disorders
Version 3.5
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Expert list
Phenotypes
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.56
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
- Emory Genetics Laboratory
Phenotypes
- Cutis laxa, autosomal recessive, type IIB 612940
- Cutis laxa, autosomal recessive, type IIIB 614438
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Cutis laxa, autosomal recessive, type IIb/IIIb (Disorders of ornithine or proline metabolism)
- Cutis laxa, autosomal recessive, type IIB, 612940
- Cutis laxa, autosomal recessive, type IIIB, 614438
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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
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Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Cutis laxa, autosomal recessive, type IIB, 612940
- Cutis laxa, autosomal recessive, type IIb/IIIb (Disorders of ornithine or proline metabolism)
- Cutis laxa, autosomal recessive, type IIIB, 614438
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Version 3.105
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Red
Phenotypes
- Cutis laxa, autosomal recessive, type IIIB, 614438
- Cutis laxa, autosomal recessive, type IIB, 612940
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Level 3: Connective tissues disorders
Level 2: Rheumatological disorders
Version 3.12
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Illumina TruGenome Clinical Sequencing Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Cutis laxa, autosomal recessive, type IIIB, OMIM:614438
- Cutis laxa, autosomal recessive, type IIB, OMIM:612940
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Version 3.155
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB
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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 Red
- Emory Genetics Laboratory
Phenotypes
- Osteogenesis Imperfecta and Decreased Bone Density
- skeletal dysplasias
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Version 3.87
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
- CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB 612940
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
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
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Cutis laxa, autosomal recessive, type IIB, 612940
- ARCL2B
- Intellectual disability
|
Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 4.168
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- Cutis laxa, autosomal recessive, type IIB, 612940
- Cutis laxa, autosomal recessive, type IIIB, 614438
|
Version 3.75
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
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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
- Cutis laxa, autosomal recessive, type IIB, 612940
- Cutis laxa, autosomal recessive, type IIIB, 614438
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