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  2. Pulmonary fibrosis familial
  3. ABCA3
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Pulmonary fibrosis familial

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

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Created: 16 Feb 2022, 4:02 p.m. | Last Modified: 16 Feb 2022, 4:02 p.m.
Panel Version: 0.2
Created: 16 Feb 2022, 4:02 p.m.
Last Modified: 16 Feb 2022, 4:02 p.m.
Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 3, OMIM:610921
OMIM
601615
Clinvar variants
Variants in ABCA3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: ABCA3 was added gene: ABCA3 was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: ABCA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCA3 were set to 32238781; 15044640; 26780485; 24730976; 25553246 Phenotypes for gene: ABCA3 were set to Surfactant metabolism dysfunction, pulmonary, 3, OMIM:610921