Activity

Filter

Cancel
Date Panel Item Activity
12 actions
Interstitial Lung Disease v0.192 CSF2RA Zornitza Stark edited their review of gene: CSF2RA: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.192 CSF2RA Zornitza Stark changed review comment from: Males and females affected, variants are bi-allelic as gene is located in the PAR.; to: Males and females affected, variants are bi-allelic as gene is located in PAR1.
Interstitial Lung Disease v0.192 CSF2RA Zornitza Stark changed review comment from: Males and females affected, variants are bi-allelic.; to: Males and females affected, variants are bi-allelic as gene is located in the PAR.
Interstitial Lung Disease v0.192 CSF2RA Zornitza Stark commented on gene: CSF2RA: Males and females affected, variants are bi-allelic.
Interstitial Lung Disease v0.192 CSF2RA Zornitza Stark reviewed gene: CSF2RA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Interstitial Lung Disease v0.192 CSF2RA Zornitza Stark Marked gene: CSF2RA as ready
Interstitial Lung Disease v0.192 CSF2RA Zornitza Stark Gene: csf2ra has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.192 CSF2RA Zornitza Stark Mode of inheritance for gene: CSF2RA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.191 CSF2RA Zornitza Stark Publications for gene: CSF2RA were set to
Interstitial Lung Disease v0.190 CSF2RA Zornitza Stark Phenotypes for gene: CSF2RA were changed from to Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770
Interstitial Lung Disease v0.183 CSF2RA Suzanna Lindsey-Temple reviewed gene: CSF2RA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20622029, 25425184, 18955570; Phenotypes: Childhood pulmonary alveolar proteinosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.0 CSF2RA Zornitza Stark gene: CSF2RA was added
gene: CSF2RA was added to Interstitial Lung Disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CSF2RA was set to Unknown