Familial pulmonary fibrosis
Gene: CSF2RAComment on phenotypes: Added phenotype suggested by expert reviewerCreated: 27 Apr 2017, 3:05 p.m.
Association with PAPCreated: 26 Apr 2017, 9:19 a.m.
Comment on list classification: Sufficient reported casesCreated: 9 Feb 2017, 3:18 p.m.
Reported in at least 11 individuals with pulmonary alveolar proteinosisCreated: 9 Feb 2017, 3:18 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Surfactant metabolism dysfunction, pulmonary, 4 300770
Publications
Tag Pseudoautosomal region 1 tag was added to gene: CSF2RA.
Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
Phenotypes for CSF2RA were set to Surfactant metabolism dysfunction, pulmonary, 4, 300770; Pulmonary alveolar proteinosis
This gene has been classified as Green List (High Evidence).
Phenotypes for CSF2RA were set to Surfactant metabolism dysfunction, pulmonary, 4, 300770
Publications for CSF2RA were set to 25425184
Mode of inheritance for CSF2RA was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
CSF2RA was added to Familial pulmonary fibrosispanel. Source: Radboud University Medical Center, Nijmegen
CSF2RA was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory
CSF2RA was created by ellenmcdonagh