Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Saethre-Chotzen syndrome with or without eyelid anomalies, OMIM:101400
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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
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Victorian Clinical Genetics Services
Phenotypes
- Robinow-Sorauf syndrome, 180750
- Saethre-Chotzen syndrome, 101400
- Polydactyly
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Version 1.15
Latest signed off version: v1.2
(13 Feb 2020)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert list
- Expert Review Green
Phenotypes
- Craniosynostosis 1 OMIM:123100
- Saethre-Chotzen syndrome with or without eyelid anomalies OMIM:101400
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.54
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Robinow-Sorauf syndrome 180750
- Saethre-Chotzen syndrome 101400
- Craniosynostosis, type 1 123100
- Saethre-Chotzen syndrome with eyelid anomalies 101400
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Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- SAETHRE-CHOTZEN SYNDROME
- CRANIOSYNOSTOSIS, TYPE 1
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Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.179
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
- Expert list
- Radboud University Medical Center, Nijmegen
Phenotypes
- Saethre-Chotzen syndrome, 101400
- Saethre-Chotzen syndrome with eyelid anomalies, 101400
- Craniosynostosis, type 1, 123100
- Robinow-Sorauf syndrome, 180750
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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
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- CRANIOSYNOSTOSIS, TYPE 1 123100
- SAETHRE-CHOTZEN SYNDROME 101400
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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
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
Phenotypes
|
Version 1.182
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Saethre-Chotzen syndrome with or without eyelid anomalies, 101400
- Sweeney-Cox syndrome, 617746
- Robinow-Sorauf syndrome, 180750
- Craniosynostosis 1, 123100
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