Surfactant deficiency
Gene: ABCA3
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
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, 1:02 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
Phenotypes for gene: ABCA3 were changed from Surfactant metabolism dysfunction, pulmonary 3, 610921 to Surfactant metabolism dysfunction, pulmonary 3, OMIM:610921
Publications for gene: ABCA3 were set to 15044640
Phenotypes for gene: ABCA3 were changed from to Surfactant metabolism dysfunction, pulmonary 3, 610921
Publications for gene: ABCA3 were set to
Mode of inheritance for gene: ABCA3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source Expert Review Green was added to ABCA3. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: ABCA3 was added gene: ABCA3 was added to Surfactant deficiency. Sources: NHS GMS Mode of inheritance for gene: ABCA3 was set to