Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
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
- NHS GMS
- Expert Review Green
- ClinGen
Phenotypes
- Potocki-Shaffer syndrome
- multiple exostoses
- biparietal foramina
- intellectual disability
- strabismus
- minor craniofacial anomalies
- myopia
- ophthalmologic anomalies
- 601224
- mental retardation
- enlarged anterior fontanel
- genital abnormalities in males
- parietal foramina
- developmental delay
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Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 5.1
Latest signed off version: v5.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
- ClinGen
Phenotypes
- Potocki-Shaffer syndrome
- multiple exostoses
- biparietal foramina
- intellectual disability
- strabismus
- minor craniofacial anomalies
- myopia
- ophthalmologic anomalies
- 601224
- mental retardation
- enlarged anterior fontanel
- genital abnormalities in males
- parietal foramina
- developmental delay
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- ClinGen
Phenotypes
- Potocki-Shaffer syndrome
- multiple exostoses
- biparietal foramina
- intellectual disability
- strabismus
- minor craniofacial anomalies
- myopia
- ophthalmologic anomalies
- 601224
- mental retardation
- enlarged anterior fontanel
- genital abnormalities in males
- parietal foramina
- developmental delay
|