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Version 1.50
Latest signed off version: v1.4
(15 Oct 2020)
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- DDD4
- DOWLING-DEGOS DISEASE 4
- Dowling-Degos disease
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.31
Latest signed off version: v2.2
(2 Mar 2020)
Component of the following Super Panels:
Hypotonic infant
Neuromuscular disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- NHS GMS
- London South GLH
Phenotypes
- ?Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232
Tags
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.44
Latest signed off version: v2.4
(2 Mar 2020)
Component of the following Super Panels:
Hypotonic infant
Neuromuscular disorders
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- NHS GMS
- Yorkshire and North East GLH
- Expert list
Phenotypes
- Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232
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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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Not set
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Sources
- Victorian Clinical Genetics Services
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