SFTPB

surfactant protein B
OMIM: 178640, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green SFTPB in Interstitial Lung Disease


Level 2: Respiratory disorders
Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120

Green SFTPB in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120

Green SFTPB in Pulmonary Fibrosis_Interstitial Lung Disease


Level 2: Respiratory disorders
Version 0.57

review Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green SFTPB in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3)

Green SFTPB in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary

Green SFTPB in Prepair 1000+


Level 2: Screening
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3)

Red SFTPB in BabyScreen+ newborn screening


Level 2: Screening
Version 1.114

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120