Genomics England
GMS Panels
Panels
Genes and Entities

SFTPB

surfactant protein B
OMIM: 178640
PanelMode of inheritanceDetails
2 panels
Green
in Childhood interstitial lung disease
R-numbers: R462
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Surfactant metabolism dysfunction, pulmonary, 1, OMIM:265120, surfactant metabolism dysfunction, pulmonary, 1, MONDO:0009929
Green
in Pulmonary fibrosis familial
R-numbers: R421
Signed-off version 1.9
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Surfactant metabolism dysfunction, pulmonary, 1, OMIM:265120