CSF2RA

colony stimulating factor 2 receptor alpha subunit
OMIM: 306250, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green CSF2RA in COVID-19 research 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 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 Pseudoautosomal region 1
Green CSF2RA in Familial pulmonary fibrosis Level 3: Interstitial lung disorders Level 2: Respiratory disorders Version 1.31	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 Pseudoautosomal region 1
Green CSF2RA in Primary immunodeficiency or monogenic inflammatory bowel disease Version 5.3 Latest signed off version: v5.0 (1 May 2024)	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 Pseudoautosomal region 1
Red CSF2RA in Intellectual disability 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 Red Phenotypes Surfactant metabolism dysfunction, pulmonary, 4 300770 Tags Pseudoautosomal region 1
Green CSF2RA in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Surfactant metabolism dysfunction, pulmonary, 4, 300770 Tags Pseudoautosomal region 1
Green CSF2RA in Pulmonary fibrosis familial 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 Expert Review Green Phenotypes Surfactant metabolism dysfunction, pulmonary, 4, OMIM:300770 Tags Pseudoautosomal region 1