Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45
|
review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Glaucoma 3, primary congenital, E, OMIM:617272
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Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.16
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
|
Sources
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Venous malformations, multiple cutaneous and mucosal, 600195
- Multiple Cutaneous and Mucosal Venous Malformations
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Level 3: Vascular lung disorders
Level 2: Respiratory disorders
Version 3.6
Latest signed off version: v3.0
(30 Nov 2022)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Radboud University Medical Center, Nijmegen
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Venous malformations, multiple cutaneous and mucosal 600195
|
Version 2.47
Latest signed off version: v2.0
(30 Nov 2022)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- Expert Review
Phenotypes
- Venous malformations, multiple cutaneous and mucosal, OMIM:600195
- Unifocal and multifocal sporadic venous malformations
- Blue rubber bleb naevus
Tags
- somatic
- Q3_23_promote_green
- Q3_23_NHS_review
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Version 1.63
Latest signed off version: v1.3
(15 Oct 2020)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Venous malformations, multiple cutaneous and mucosal, OMIM:600195
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
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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
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL 600195
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.12
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Venous malformations, multiple cutaneous and mucosal, 600195
|
Version 3.79
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Glaucoma 3, primary congenital, E, OMIM:617272
|
Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Glaucoma 3, primary congenital, E, 617272
- Venous malformations, multiple cutaneous and mucosal, 600195
|