SFTPC

surfactant protein C
OMIM: 178620, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green SFTPC in Interstitial Lung Disease


Level 2: Respiratory disorders
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913
Green SFTPC in Mendeliome


Version 1.2302

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913
Green SFTPC in Pulmonary Fibrosis_Interstitial Lung Disease


Level 2: Respiratory disorders
Version 0.84

review Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
Green SFTPC in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • BabySeq Category C gene
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 2 MIM# 178620
  • Interstitial lung disease
Red SFTPC in BabyScreen+ newborn screening


Level 2: Screening
Version 1.116

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913