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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Other - please specifiy in evaluation comments
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Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Facial clefting, oblique, 1 600251
- Opitz GBBB syndrome, type II 145410
- Teebi hyperterorism like syndrome 145420
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Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- ?Facial clefting, oblique, 1, OMIM:600251
- Tessier number 4 facial cleft, MONDO:0010850
- Hypertelorism, Teebi type, OMIM:145420
- Hypertelorism, Teebi type, MONDO:0007780
- Opitz GBBB syndrome, type II, OMIM:145410
- Autosomal dominant Opitz G/BBB syndrome, MONDO:0007779
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Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.179
Latest signed off version: v4.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- NHS GMS
- Expert Review
Phenotypes
- Opitz GBBB syndrome, type II 145410
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Version 3.79
Latest signed off version: v3.1
(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
- DD-Gene2Phenotype
Phenotypes
- FACIAL CLEFTING, OBLIQUE, 1 600251
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Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.108
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
- Radboud University Medical Center, Nijmegen
Phenotypes
- ?Facial clefting, oblique, 1, 600251
- Opitz GBBB syndrome, type II (with clefting), 145410
- OPITZ GBBB SYNDROME, TYPE II
- GBBB2
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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
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Literature
Phenotypes
- Opitz GBBB syndrome, type II,145410
- Intellectual disability
- Autosomal dominant Opitz G/BBB syndrome
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Version 1.182
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Opitz GBBB syndrome, type II, 145410
- ?Facial clefting, oblique, 1, 600251
- Hypertelorism, Teebi type, 145420
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