SFTPA1

surfactant protein A1
OMIM: 178630, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber SFTPA1 in Interstitial Lung Disease


Level 2: Respiratory disorders
Version 1.0

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Idiopathic pulmonary fibrosis
  • Interstitial lung disease 1, MIM# 619611

Green SFTPA1 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Idiopathic pulmonary fibrosis
  • Interstitial lung disease 1, MIM# 619611

Green SFTPA1 in Pulmonary Fibrosis_Interstitial Lung Disease


Level 2: Respiratory disorders
Version 0.57

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Idiopathic pulmonary fibrosis
  • Interstitial lung disease 1, MIM# 619611