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 3.12
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
- Literature
- Radboud University Medical Center, Nijmegen
Phenotypes
- Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies (617877)
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Version 4.21
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
- London South East RGC GSTT
- Viapath
Phenotypes
- Brachydactyly, type A2 112600
- Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 617877
Tags
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Emory Genetics Laboratory
Phenotypes
- short stature, facial dysmorphism and skeletal anomalies with or without cardiac aomalies 617877.
- Brachydactyly, type A2 112600
- {HFE hemochromatosis, modifier of} 235200
Tags
|
Version 3.164
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- PAGE Additional Gene List
- PAGE DD-Gene2Phenotype
Phenotypes
- Short stature, palatal anomalies, congenital heart disease, and skeletal malformations
- Brachydactyly, type A2 112600
Tags
|
Version 3.88
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- Short stature, palatal anomalies, congenital heart disease, and skeletal malformations
|
Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.110
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Victorian Clinical Genetics Services
Phenotypes
- Cleft palate
- Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877
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Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877
- Brachydactyly, type A2, 112600
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