SFTPA1

surfactant protein A1
OMIM: 178630
PanelMode of inheritanceDetails
2 panels
R-numbers: R462
Signed-off version 1.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Interstitial lung disease 1, OMIM:619611, interstitial lung disease 1, MONDO:0030608
R-numbers: R421
Signed-off version 1.9
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Interstitial lung disease 1, OMIM:619611