MARS

methionyl-tRNA synthetase
OMIM: 156560
PanelMode of inheritanceDetails
2 panels
R-numbers: R462
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, MONDO:0014206, Interstitial lung and liver disease, OMIM:615486
R-numbers: R421
Signed-off version 1.9
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Interstitial lung and liver disease, OMIM:615486