Version 4.4
Latest signed off version: v4.0
(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
- Alkuraya-Kucinskas syndrome, OMIM:617822
Tags
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Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.12
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Expert list
Phenotypes
- Alkuraya-Kucinskas syndrome, 617822
- Brain atrophy, Dandy Walker and Contractures
Tags
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.1
Latest signed off version: v6.0
(1 May 2024)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Alkuraya-Kucinskas syndrome 617822
Tags
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Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- Brain atrophy, Dandy Walker and Contractures
- Alkuraya-Kucinskas syndrome, 617822
Tags
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- Brain atrophy, Dandy Walker and Contractures
Tags
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.1
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
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
- Expert Review Green
- Wessex and West Midlands GLH
- NHS GMS
- Victorian Clinical Genetics Services
Phenotypes
- Alkuraya-Kucinskas syndrome 617822
- seizures
Tags
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.1
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Literature
- Expert Review Green
- Expert Review Green
- Literature
Phenotypes
- Brain atrophy, Dandy Walker and Contractures
- Alkuraya-Kucinskas syndrome,617822
Tags
|
Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Alkuraya-Kucinskas syndrome
Tags
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Alkuraya-Kucinskas syndrome, 617822
Tags
|