Surfactant deficiency

Gene: SFTPB

Green List (high evidence)

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

• 8163685
• 12501227
• 10712351

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

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, 1:08 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 given

Created: 5 Dec 2018, 2:58 p.m.