Surfactant deficiency

Gene: SFTPC

Green List (high evidence)

SFTPC (surfactant protein C)
EnsemblGeneIds (GRCh38): ENSG00000168484
EnsemblGeneIds (GRCh37): ENSG00000168484
OMIM: 178620, Gene2Phenotype
SFTPC is in 2 panels

2 reviews

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

On Royal Brompton Childhood interstitial lung disease (surfactant deficiency) panel, and several pathogenic variants reported . Multiple reports in literature and ClinVar. Strong evidence for association.
Created: 20 Aug 2019, 4:34 p.m. | Last Modified: 20 Aug 2019, 4:34 p.m.
Panel Version: 0.11

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Surfactant metabolism dysfunction, pulmonary, 2 (OMIM: 610913)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: it was agreed there was evidence to rate this gene Green on this panel, test group would further provide MOI and Phenotypes and if possible add PMID to support rating
Created: 21 Aug 2019, 1:10 p.m. | Last Modified: 21 Aug 2019, 1:10 p.m.
Panel Version: 0.25
Added MOI, Phenotypes and Publications as suggested by expert review Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)
Created: 21 Aug 2019, 1:09 p.m. | Last Modified: 21 Aug 2019, 1:09 p.m.
Panel Version: 0.25
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: SFTPC; Suggested initial gene rating: Green; Evidence for inclusion: OMIM Surfactant metabolism dysfunction gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): Some upstream variants associated with reduced transcription to cover; see PMID 20539253.
Created: 5 Dec 2018, 2:58 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
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

17 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SFTPC were changed from Surfactant metabolism dysfunction, pulmonary 2, 610913 to Surfactant metabolism dysfunction, pulmonary 2, OMIM:610913

21 Aug 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: SFTPC were changed from to Surfactant metabolism dysfunction, pulmonary 2, 610913

21 Aug 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: SFTPC were set to

21 Aug 2019, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: SFTPC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

5 Dec 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SFTPC. Rating Changed from Red List (low evidence) to Green List (high evidence)

5 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SFTPC was added gene: SFTPC was added to Surfactant deficiency. Sources: NHS GMS Mode of inheritance for gene: SFTPC was set to