Pulmonary Fibrosis_Interstitial Lung Disease
Gene: SFTPC

SFTPC (surfactant protein C)
EnsemblGeneIds (GRCh38): ENSG00000168484
EnsemblGeneIds (GRCh37): ENSG00000168484
OMIM: 178620, Gene2Phenotype
SFTPC is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 21 Oct 2021, 10:25 p.m. | Last Modified: 21 Oct 2021, 10:25 p.m.

Panel Version: 0.9434

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913

Publications

Created: 21 Oct 2021, 10:25 p.m.
Last Modified: 21 Oct 2021, 10:25 p.m.
Panel version: Imported from Mendeliome panel version 0.9434

Details

Mode of Inheritance

Unknown

Sources

Expert Review Green
Victorian Clinical Genetics Services
Victorian Clinical Genetics Services
Expert Review Green

OMIM

178620

Clinvar variants

Variants in SFTPC

Penetrance

None

Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SFTPC was added gene: SFTPC was added to Pulmonary Fibrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SFTPC was set to Unknown

Pulmonary Fibrosis_Interstitial Lung Disease Gene: SFTPC