Level 3: Congenital heart disease
Level 2: Cardiovascular disorders
Version 1.80
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- developmental delay
- intellectual disability
- cardiac defects
- short stature
- skeletal anomalies
- a typical facial gestalt
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Version 3.87
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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- SPRED2-related Noonan syndrome
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Version 3.88
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Noonan syndrome 14, OMIM:619745
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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
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
- Literature
Phenotypes
- developmental delay
- intellectual disability
- cardiac defects
- short stature
- skeletal anomalies
- a typical facial gestalt
|
Level 3: RASopathies
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.81
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- developmental delay
- intellectual disability
- cardiac defects
- short stature
- skeletal anomalies
- a typical facial gestalt
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Version 3.46
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- developmental delay
- intellectual disability
- cardiac defects
- short stature
- skeletal anomalies
- a typical facial gestalt
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