Interstitial Lung Disease

Gene: MARS

Green List (high evidence)

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

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

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

History Filter Activity

8 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MARS were set to 24103465; 25913036

29 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mars has been classified as Green List (High Evidence).

29 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MARS were changed from to Interstitial lung and liver disease, MIM#615486

29 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MARS were set to

29 Oct 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MARS was added gene: MARS was added to Interstitial Lung Disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MARS was set to Unknown