Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.14
Latest signed off version: v4.0
(22 Mar 2023)
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review
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Not set
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Sources
Phenotypes
- Confirmed DD gene for PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA
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Version 3.11
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 Amber
- NHS GMS
Phenotypes
- Short stature
- dental anomalies
- aortopathy
- facial dysmorphism
- learning disability
- Dental anomalies and short stature, OMIM:601216
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Geleophysic dysplasia 3, OMIM:617809
- Dental anomalies and short stature, OMIM:610216
- geleophysic dysplasia 3, MONDO:0054722,
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 3.3
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 Green
- UKGTN
- Eligibility statement prior genetic testing
- Other
Phenotypes
- Dental anomalies and short stature, OMIM:601216
- Amelogenesis Imperfecta
- syndromic AI with brachyolmia
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Version 4.1
Latest signed off version: v4.0
(1 May 2024)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- NHS GMS
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
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
- PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA 601216
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0
(1 May 2024)
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
- Tooth agenesis, selective, 6, 613097
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Version 1.184
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Geleophysic dysplasia 3, 617809
- Dental anomalies and short stature, 601216
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