Level 2: Viral research
Version 1.141
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- IUIS Classification February 2018
- London North GLH
- NHS GMS
- North West GLH
- Victorian Clinical Genetics Services
- Expert Review Green
- NHS GMS
- North West GLH
- London North GLH
- Expert Review Green
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
Phenotypes
- Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features
- Combined immunodeficiencies with associated or syndromic features
- Hennekam lymphangiectasia-lymphedema syndrome 2, 616006
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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
Phenotypes
- Hennekam lymphangiectasia-lymphedema syndrome 2, OMIM:616006
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.26
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Cerebral malformation
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Expert list
Phenotypes
- Van Maldergem syndrome 2, OMIM:615546
Tags
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Version 4.201
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Other
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
Phenotypes
- Hennekam lymphangiectasia-lymphedema syndrome 2, 616006
- Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features
- Combined immunodeficiencies with associated or syndromic features
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Version 3.157
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- PERIVENTRICULAR NEURONAL HETEROTOPIA
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Version 3.87
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
- PERIVENTRICULAR NEURONAL HETEROTOPIA
- HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 616006
- VAN MALDERGEM SYNDROME 615546
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.536
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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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- PERIVENTRICULAR NEURONAL HETEROTOPIA
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Level 3: Lymphatic Disorders
Level 2: Cardiovascular disorders
Version 3.11
Latest signed off version: v3.0
(30 Nov 2022)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- London South GLH
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Hennekam lymphangiectasia-lymphedema syndrome 2, 616006
- Van Maldergem syndrome 2, 615546
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Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Hennekam lymphangiectasia-lymphedema syndrome 2, 616006
- Van Maldergem syndrome 2, 615546
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