Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Other
- Literature
Phenotypes
- Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
- generalised lymphatic dysplasia
- fetal hydrops
|
Level 2: Viral research
Version 1.142
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- IUIS Classification February 2018
- London North GLH
- NHS GMS
- GRID V2.0
- 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
- GRID V2.0
Phenotypes
- Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features
- Combined immunodeficiencies with associated or syndromic features
- Hennekam lymphangiectasia-lymphedema syndrome 1, 235510
|
Version 3.3
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
|
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Other
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- GRID V2.0
Phenotypes
- Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
- Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features
- Combined immunodeficiencies with associated or syndromic features
|
Version 1.63
Latest signed off version: v1.3
(15 Oct 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
Tags
- Q1_24_demote_red
- Q1_24_expert_review
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
|
Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 5.1
Latest signed off version: v5.0
(1 May 2024)
|
review
|
Not set
|
Sources
Phenotypes
- Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 235510
|
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
|
Level 3: Lymphatic Disorders
Level 2: Cardiovascular disorders
Version 3.11
Latest signed off version: v3.0
(30 Nov 2022)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London South GLH
- Illumina TruGenome Clinical Sequencing Services
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
Phenotypes
- Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Hennekam lymphangiectasia-lymphedema syndrome 1, 235510
|