Surfactant deficiency

Gene: ABCA3

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, 2:24 p.m. | Last Modified: 20 Aug 2019, 2:24 p.m.

Panel Version: 0.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Surfactant metabolism dysfunction, pulmonary, 3 (OMIM: 610921)

Publications

• 15044640

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, 1:02 p.m. | Last Modified: 21 Aug 2019, 1:02 p.m.

Panel Version: 0.17

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 p.m. | Last Modified: 21 Aug 2019, 1 p.m.

Panel Version: 0.17

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: ABCA3; 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?): Pseudogene but doesn't appear to adversely effect read mapping quality (Leeds data). At least one recurrent deep intronic mutation c.3863-98C>T.

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

Publications

• 17719949