1. Panels
  2. Childhood interstitial lung disease
  3. SFTPB
STRs in panel
Prev Next
Regions in panel
Prev Next

Childhood interstitial lung disease

Gene: SFTPB

Green List (high evidence)
SFTPB (surfactant protein B)
EnsemblGeneIds (GRCh38): ENSG00000168878
EnsemblGeneIds (GRCh37): ENSG00000168878
OMIM: 178640, Gene2Phenotype
SFTPB is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

SFTPB has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 26 Jan 2026, 6:34 p.m. | Last Modified: 26 Jan 2026, 6:34 p.m.
Panel Version: 0.5
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #265120) and the OMIM record was last accessed on 30 December 2025.
Created: 30 Dec 2025, 7:22 p.m. | Last Modified: 30 Dec 2025, 7:22 p.m.
Panel Version: 0.2

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
surfactant metabolism dysfunction, pulmonary, 1, MONDO:0009929; Surfactant metabolism dysfunction, pulmonary, 1, OMIM:265120

Created: 30 Dec 2025, 7:22 p.m.
Last Modified: 30 Dec 2025, 7:22 p.m.
Panel version: 0.5

Details

Mode of Inheritance
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
OMIM
178640
Clinvar variants
Variants in SFTPB
Penetrance
None
Panels with this gene

History Filter Activity

30 Dec 2025, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SFTPB was added gene: SFTPB was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SFTPB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SFTPB were set to Surfactant metabolism dysfunction, pulmonary, 1, OMIM:265120; surfactant metabolism dysfunction, pulmonary, 1, MONDO:0009929