SFTPC

surfactant protein C
OMIM: 178620, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green SFTPC in Familial pulmonary fibrosis Level 3: Interstitial lung disorders Level 2: Respiratory disorders Version 1.32	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory UKGTN Eligibility statement prior genetic testing Phenotypes Surfactant metabolism dysfunction, pulmonary, 2, 610913 Interstitial Lung Disease Pulmonary alveolar proteinosis
Green SFTPC in Surfactant deficiency Level 2: Respiratory Version 1.12 Latest signed off version: v1.2 (2 Mar 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Surfactant metabolism dysfunction, pulmonary 2, OMIM:610913
Green SFTPC in Pulmonary fibrosis familial Level 2: Respiratory Version 1.9 Latest signed off version: v1.3 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Surfactant metabolism dysfunction, pulmonary, 2, OMIM:610913
Green SFTPC in Childhood interstitial lung disease Level 2: Respiratory Version 0.7	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Surfactant metabolism dysfunction, pulmonary, 2, OMIM:610913 SFTPC-related interstitial lung disease, MONDO:0018603 surfactant metabolism dysfunction, pulmonary, 2, MONDO:0024465