SFTPB

surfactant protein B
OMIM: 178640, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green SFTPB in Familial pulmonary fibrosis

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.29

review BIALLELIC, autosomal or pseudoautosomal
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, 1, 265120

Green SFTPB in Surfactant deficiency


Version 1.9
Latest signed off version: v1.2 (2 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary 1, OMIM:265120

Green SFTPB in Severe Paediatric Disorders


Version 1.127

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 1, 265120

Green SFTPB in Pulmonary fibrosis familial

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 0.10

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 1, OMIM:265120