Interstitial Lung Disease
Gene: SFTPC

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

2 reviews

Suzanna Lindsey-Temple (Liverpool Hospital)

Green List (high evidence)

Well-established gene-disorder association.
Created: 5 Nov 2021, 1:07 a.m. | Last Modified: 5 Nov 2021, 1:07 a.m.

Panel Version: 0.154

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 5 Nov 2021, 1:07 a.m.
Last Modified: 5 Nov 2021, 1:07 a.m.
Panel version: 0.154

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 21 Oct 2021, 10:23 p.m. | Last Modified: 21 Oct 2021, 10:23 p.m.

Panel Version: 0.67

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 21 Oct 2021, 10:23 p.m.
Last Modified: 21 Oct 2021, 10:23 p.m.
Panel version: 0.67

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913

OMIM

178620

Clinvar variants

Variants in SFTPC

Penetrance

None

Publications

Panels with this gene