Genomics England
GMS Panels
Panels
Genes and Entities

ABCA3

ATP binding cassette subfamily A member 3
OMIM: 601615
PanelMode of inheritanceDetails
2 panels
Green
in Childhood interstitial lung disease
R-numbers: R462
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
interstitial lung disease due to ABCA3 deficiency, MONDO:0012582, Surfactant metabolism dysfunction, pulmonary, 3, OMIM:610921
Green
in Pulmonary fibrosis familial
R-numbers: R421
Signed-off version 1.9
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Surfactant metabolism dysfunction, pulmonary, 3, OMIM:610921