1. Genes and Genomic Entities
  2. SFTPB

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 1.32

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


Level 2: Respiratory
Version 1.12
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 Pulmonary fibrosis familial


Level 2: Respiratory
Version 1.8
Latest signed off version: v1.3 (30 Nov 2022)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 1, OMIM:265120
Green SFTPB in Childhood interstitial lung disease


Level 2: Respiratory
Version 0.7

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 1, OMIM:265120
  • surfactant metabolism dysfunction, pulmonary, 1, MONDO:0009929