Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.11
Latest signed off version: v3.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Amber
- Literature
Phenotypes
- Moyamoya disease MONDO:0016820
- Sifrim-Hitz-Weiss syndrome OMIM:617159
- Sifrim-Hitz-Weiss syndrome MONDO:0014946
Tags
- to_be_confirmed_NHSE
- watchlist
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Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.34
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- Literature
Phenotypes
- Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
- Sifrim-Hitz-Weiss syndrome 617159
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Version 3.146
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
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- Sifrim-Hitz-Weiss syndrome OMIM:617159
- Sifrim-Hitz-Weiss syndrome MONDO:0014946
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Version 3.79
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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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
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Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.108
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Amber
- Literature
Phenotypes
- Sifrim-Hitz-Weiss syndrome, OMIM:617159
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.183
Latest signed off version: v4.0
(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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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- NHS GMS
- Literature
Phenotypes
- Sifrim-Hitz-Weiss syndrome, OMIM:617159
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
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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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Expert Review Green
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Sifrim-Hitz-Weiss syndrome OMIM:617159
- Sifrim-Hitz-Weiss syndrome MONDO:0014946
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Version 1.182
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Sifrim-Hitz-Weiss syndrome, 617159
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