SFTPC

surfactant protein C
OMIM: 178620, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 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 Pulmonary fibrosis familial


Level 2: Respiratory
Version 1.10
Latest signed off version: v1.9 (6 May 2026)

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 1.1
Latest signed off version: v1.0 (6 May 2026)

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