Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.176
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- BRIDGE Study Tier 1 Gene
Phenotypes
- Ghosal hematodiaphyseal syndrome, OMIM:231095
- ?Thromboxane synthase deficiency, OMIM:614158
- Bleeding disorder, platelet-type, 14, OMIM:614158
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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
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- Expert list
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
Phenotypes
- Ghosal hematodiaphyseal syndrome, OMIM:231095
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Version 3.8
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- North West GLH
- Yorkshire and North East GLH
- London South GLH
- NHS GMS
- Expert Review Green
- Wessex and West Midlands GLH
Phenotypes
- Ghosal hematodiaphyseal syndrome, OMIM:231095
- ?Thromboxane synthase deficiency, OMIM:614158
- Bleeding disorder, platelet-type, 14, OMIM:614158
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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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- GHOSAL HEMATODIAPHYSEAL 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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- GHOSAL HEMATODIAPHYSEAL SYNDROME 231095
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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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Ghosal hematodiaphyseal syndrome, OMIM:231095
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Version 1.182
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Ghosal hematodiaphyseal syndrome, 231095
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