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  3. MARS
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Liver Failure_Paediatric

Gene: MARS

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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.
Sources: Expert list
Created: 1 Nov 2020, 7:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Interstitial lung and liver disease, MIM#615486

Publications

Created: 1 Nov 2020, 7:14 a.m.

Panel version: 0.37

History Filter Activity

1 Nov 2020, 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).

1 Nov 2020, 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).

1 Nov 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MARS was added gene: MARS was added to Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: MARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MARS were set to 24103465; 25913036 Phenotypes for gene: MARS were set to Interstitial lung and liver disease, MIM#615486 Review for gene: MARS was set to GREEN