Familial pulmonary fibrosis

Gene: ABCA3

Green List (high evidence)

ABCA3 (ATP binding cassette subfamily A member 3)
EnsemblGeneIds (GRCh38): ENSG00000167972
EnsemblGeneIds (GRCh37): ENSG00000167972
OMIM: 601615, Gene2Phenotype
ABCA3 is in 4 panels

4 reviews

Louise Daugherty (Genomics England Curator)

Comment on publications: Added publications suggested by expert reviewer
Created: 27 Apr 2017, 2:59 p.m.

Philip Molyneaux (Imperial College)

Green List (high evidence)

Two other publications, PMIDs - 26780485 and 25553246. Most evidence in paediatric disease
Created: 26 Apr 2017, 9:14 a.m.

Helen Brittain (Genomics England Curator)

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.

Alice Gardham (Genomics England)

Green List (high evidence)

Usually severe/fatal neonatal lung disease but reports of interstitial lung disease in older children and adults too
Created: 9 Feb 2017, 9:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Surfactant metabolism dysfunction, pulmonary, 3 610921

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 3, 610921
Tags
non-coding-known-pathogenic
OMIM
601615
Clinvar variants
Variants in ABCA3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

27 Apr 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017

27 Apr 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ABCA3 were set to 24730976; 15044640; 26780485; 25553246

9 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

9 Feb 2017, Gel status: 4

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for ABCA3 were set to Surfactant metabolism dysfunction, pulmonary, 3, 610921

9 Feb 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for ABCA3 were set to 24730976; 15044640

29 Oct 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

ABCA3 was added to Familial pulmonary fibrosispanel. Source: Radboud University Medical Center, Nijmegen

29 Oct 2015, Gel status: 3

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

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

29 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ABCA3 was added to Familial pulmonary fibrosispanel. Source: UKGTN

29 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ABCA3 was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory

29 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ABCA3 was created by ellenmcdonagh