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 Pulmonary fibrosis familial
R-numbers: R421
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Surfactant metabolism dysfunction, pulmonary, 3, OMIM:610921
Green
in Surfactant deficiency
R-numbers: R192
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Surfactant metabolism dysfunction, pulmonary 3, 610921