Surfactant deficiency
Gene: SFTPC
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
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 ratingCreated: 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.
Phenotypes for gene: SFTPC were changed from Surfactant metabolism dysfunction, pulmonary 2, 610913 to Surfactant metabolism dysfunction, pulmonary 2, OMIM:610913
Phenotypes for gene: SFTPC were changed from to Surfactant metabolism dysfunction, pulmonary 2, 610913
Publications for gene: SFTPC were set to
Mode of inheritance for gene: SFTPC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source Expert Review Green was added to SFTPC. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: SFTPC was added gene: SFTPC was added to Surfactant deficiency. Sources: NHS GMS Mode of inheritance for gene: SFTPC was set to