Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.24
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- Other
Phenotypes
- Temple-Baraitser syndrome, 611816
- Hypoplasia of terminal phalanges
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Version 4.18
Latest signed off version: v4.0
(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
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Sources
- Expert Review Green
- Other
Phenotypes
- Hypoplasia of terminal phalanges
- Temple-Baraitser syndrome, 611816
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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
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Sources
- Expert Review Amber
- PAGE DD-Gene2Phenotype
Phenotypes
- TEMPLE BARRAISTER SYNDROME
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Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- TEMPLE BARRAISTER SYNDROME 611816
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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, NOT imprinted
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Sources
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Temple-Baraitser syndrome, OMIM:611816
- Zimmermann-Laband syndrome 1, OMIM:135500
- Intellectual disability
- Encephalopathy without features of TBS/ZLS
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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
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Victorian Clinical Genetics Services
- Expert Review Green
Phenotypes
- Temple-Baraitser syndrome, OMIM:611816
- Zimmermann-Laband syndrome 1, OMIM:135500
- Intellectual disability
- Encephalopathy without features of TBS/ZLS
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Version 1.182
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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
- Zimmermann-Laband syndrome 1, 135500
- Temple-Baraitser syndrome, 611816
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