Pulmonary fibrosis familial
Gene: SFTPC

SFTPC (surfactant protein C)
EnsemblGeneIds (GRCh38): ENSG00000168484
EnsemblGeneIds (GRCh37): ENSG00000168484
OMIM: 178620, Gene2Phenotype
SFTPC is in 3 panels

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Created: 16 Feb 2022, 4:02 p.m. | Last Modified: 16 Feb 2022, 4:02 p.m.

Panel Version: 0.2

Created: 16 Feb 2022, 4:02 p.m.
Last Modified: 16 Feb 2022, 4:02 p.m.
Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green

Phenotypes

Surfactant metabolism dysfunction, pulmonary, 2, OMIM:610913

OMIM

178620

Clinvar variants

Variants in SFTPC

Penetrance

None

Publications

Panels with this gene

History Filter Activity

16 Feb 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: SFTPC was added gene: SFTPC was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: SFTPC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SFTPC were set to 11207353; 17005585; 20656946; 20301408 Phenotypes for gene: SFTPC were set to Surfactant metabolism dysfunction, pulmonary, 2, OMIM:610913

Pulmonary fibrosis familial Gene: SFTPC