Genomics England
GMS Panels
Panels
Genes and Entities

SFTPC

surfactant protein C
OMIM: 178620
PanelMode of inheritanceDetails
2 panels
Green
in Pulmonary fibrosis familial
R-numbers: R421
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Surfactant metabolism dysfunction, pulmonary, 2, OMIM:610913
Green
in Surfactant deficiency
R-numbers: R192
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Surfactant metabolism dysfunction, pulmonary 2, 610913