Level 2: Viral research
Version 1.141
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- IUIS Classification February 2018
- London North GLH
- NHS GMS
- GRID V2.0
- Victorian Clinical Genetics Services
- North West GLH
- ESID Registry 20171117
- Expert Review Green
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- ESID Registry 20171117
- GRID V2.0
Phenotypes
- Congenital pulmonary alveolar proteinosis
- Alveolar proteinosis
- Congenital defects of phagocyte number or function
- Pulmonary alveolar proteinosis
- hypersensitivity
- Surfactant metabolism dysfunction, pulmonary 4, 300770
Tags
|
Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.30
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Surfactant metabolism dysfunction, pulmonary, 4, 300770
- Pulmonary alveolar proteinosis
Tags
|
Version 4.196
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- ESID Registry 20171117
- GRID V2.0
Phenotypes
- Surfactant metabolism dysfunction, pulmonary 4, 300770
- Congenital pulmonary alveolar proteinosis
- hypersensitivity
- Pulmonary alveolar proteinosis
- Alveolar proteinosis
- Congenital defects of phagocyte number or function
Tags
|
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Surfactant metabolism dysfunction, pulmonary, 4 300770
Tags
|
Version 1.182
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Surfactant metabolism dysfunction, pulmonary, 4, 300770
Tags
|
Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.7
Latest signed off version: v1.3
(30 Nov 2022)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Surfactant metabolism dysfunction, pulmonary, 4, OMIM:300770
Tags
|