Interstitial Lung Disease
Gene: MARS

MARS (methionyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000166986
EnsemblGeneIds (GRCh37): ENSG00000166986
OMIM: 156560, Gene2Phenotype
MARS is in 10 panels

2 reviews

Suzanna Lindsey-Temple (Liverpool Hospital)

Green List (high evidence)

Agree with other reviewer's comments.
Created: 6 Nov 2021, 6:26 a.m. | Last Modified: 6 Nov 2021, 6:26 a.m.

Panel Version: 0.183

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
FTT, anaemia, liver disease, developmental delay; Childhood ILD and PAP

Publications

PMID: 30271085
29655802.

Created: 6 Nov 2021, 6:26 a.m.
Last Modified: 6 Nov 2021, 6:26 a.m.
Panel version: 0.183

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Comment when marking as ready: New HGNC approved name is MARS1.
Created: 8 Oct 2021, 2:38 a.m. | Last Modified: 8 Oct 2021, 2:38 a.m.

Panel Version: 0.33

Autosomal recessive disorder characterized by onset of respiratory insufficiency and progressive liver disease in infancy or early childhood. More than 5 unrelated families reported. Founder variants in Reunion Island, p.Ser567Leu and p.Ala393Thr, in cis.

Pathologic examination of lung lavage is consistent with pulmonary alveolar proteinosis.
Sources: Expert list
Created: 1 Nov 2020, 7:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Interstitial lung and liver disease, MIM#615486

Publications

Created: 1 Nov 2020, 7:16 a.m.

Panel version: Imported from Pulmonary Fibrosis_Interstitial Lung Disease panel version 0.14

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list
Victorian Clinical Genetics Services

Phenotypes

Interstitial lung and liver disease, MIM#615486

OMIM

156560

Clinvar variants

Variants in MARS

Penetrance

None

Publications

Panels with this gene