SFTPA1:Ensemblv90

surfactant protein A1
OMIM: 178630, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Amber SFTPA1 in Interstitial Lung Disease Level 2: Respiratory disorders Version 1.4	2 reviews	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 1.3802	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 0.178	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
Amber SFTPA1 in Interstitial Lung Disease Level 2: Respiratory disorders Version 2.0	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Literature Expert Review Amber Phenotypes Idiopathic pulmonary fibrosis Interstitial lung disease 1, MIM# 619611
Green SFTPA1 in Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Version 1.0	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Idiopathic pulmonary fibrosis Interstitial lung disease 1, MIM# 619611