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Newborns main panel

Gene: SFTPC

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is gain-of-function (GOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 30102252 - variants promote lung injury PMID: 19443464 - 10 unrelated cases with I73T variant and 7 other variants in 8 other unrelated cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 2
OMIM
178620
Clinvar variants
Variants in SFTPC
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SFTPC. Added phenotypes Surfactant metabolism dysfunction, pulmonary, 2 for gene: SFTPC Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SFTPC. Added phenotypes Surfactant metabolism dysfunction, pulmonary, 2 for gene: SFTPC Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set mode of pathogenicity, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SFTPC. Mode of pathogenicity for gene SFTPC was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Surfactant metabolism dysfunction, pulmonary, 2 for gene: SFTPC Rating Changed from No List (delete) to Amber List (moderate evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: SFTPC was added gene: SFTPC was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: SFTPC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown