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Version 1.905
Latest signed off version: v1.92
(21 Aug 2020)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Amber
- PAGE DD-Gene2Phenotype
Phenotypes
- Mental retardation, autosomal dominant 56, OMIM:617854
- Fetal akinesia
- Fetal growth restriction
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Version 2.78
Latest signed off version: v2.2
(13 Feb 2020)
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
- DD-Gene2Phenotype
- Expert Review Amber
Phenotypes
- Overgrowth intellectual disability
- Epilepsy and intellectual disability
Tags
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.572
Latest signed off version: v2.2
(13 Feb 2020)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Wessex and West Midlands GLH
- NHS GMS
- Other
- Expert Review Green
- Expert Review Green
- Other
Phenotypes
- Mental retardation, autosomal dominant 56, OMIM:617854
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1677
Latest signed off version: v3.2
(13 Feb 2020)
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Other
- Expert Review Green
- Expert Review Green
Phenotypes
- Mental retardation, autosomal dominant 56, OMIM:617854
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Version 1.127
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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
- Mental retardation, autosomal dominant 56, 617854
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