SFTPA1

surfactant protein A1
OMIM: 178630, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green SFTPA1 in Mendeliome


Version 1.3795

1 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 0.149

2 reviews 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