Familial pulmonary fibrosis
Gene: ABCA3Comment on publications: Added publications suggested by expert reviewerCreated: 27 Apr 2017, 2:59 p.m.
Two other publications, PMIDs - 26780485 and 25553246. Most evidence in paediatric diseaseCreated: 26 Apr 2017, 9:14 a.m.
Tag added "non-coding-known-pathogenic" in view of recurrent intronic mutation causing splicing effect. See PMID 22337229
Created: 20 Feb 2017, 4:47 p.m.
Usually severe/fatal neonatal lung disease but reports of interstitial lung disease in older children and adults tooCreated: 9 Feb 2017, 9:20 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Surfactant metabolism dysfunction, pulmonary, 3 610921
Publications
Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
Publications for ABCA3 were set to 24730976; 15044640; 26780485; 25553246
This gene has been classified as Green List (High Evidence).
Phenotypes for ABCA3 were set to Surfactant metabolism dysfunction, pulmonary, 3, 610921
Publications for ABCA3 were set to 24730976; 15044640
ABCA3 was added to Familial pulmonary fibrosispanel. Source: Radboud University Medical Center, Nijmegen
ABCA3 was added to Familial pulmonary fibrosispanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene ABCA3 was set to BIALLELIC, autosomal or pseudoautosomal
ABCA3 was added to Familial pulmonary fibrosispanel. Source: UKGTN
ABCA3 was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory
ABCA3 was created by ellenmcdonagh