Surfactant deficiency
Gene: SFTPB
On Royal Brompton Childhood interstitial lung disease (surfactant deficiency) panel. Multiple reports in literature and ClinVar. Strong evidence for association.Created: 20 Aug 2019, 4:32 p.m. | Last Modified: 20 Aug 2019, 4:32 p.m.
Panel Version: 0.11
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Surfactant metabolism dysfunction, pulmonary, 1 (OMIM: 265120)
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 rating.Created: 21 Aug 2019, 1:08 p.m. | Last Modified: 21 Aug 2019, 1:08 p.m.
Panel Version: 0.22
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, 1:07 p.m. | Last Modified: 21 Aug 2019, 1:08 p.m.
Panel Version: 0.22
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: SFTPB; 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?): none givenCreated: 5 Dec 2018, 2:58 p.m.
Phenotypes for gene: SFTPB were changed from Surfactant metabolism dysfunction, pulmonary 1, 265120 to Surfactant metabolism dysfunction, pulmonary 1, OMIM:265120
Phenotypes for gene: SFTPB were changed from to Surfactant metabolism dysfunction, pulmonary 1, 265120
Publications for gene: SFTPB were set to
Mode of inheritance for gene: SFTPB was changed from to BIALLELIC, autosomal or pseudoautosomal
Source Expert Review Green was added to SFTPB. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: SFTPB was added gene: SFTPB was added to Surfactant deficiency. Sources: NHS GMS Mode of inheritance for gene: SFTPB was set to