Genomics England
GMS Panels
Panels
Genes and Entities

SFTPC

surfactant protein C
OMIM: 178620
PanelMode of inheritanceDetails
2 panels
Green
in Childhood interstitial lung disease
R-numbers: R462
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Surfactant metabolism dysfunction, pulmonary, 2, OMIM:610913, SFTPC-related interstitial lung disease, MONDO:0018603, surfactant metabolism dysfunction, pulmonary, 2, MONDO:0024465
Green
in Pulmonary fibrosis familial
R-numbers: R421
Signed-off version 1.9
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Surfactant metabolism dysfunction, pulmonary, 2, OMIM:610913