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This Panel is marked as Internal

Newborns main panel
Gene: MARS

MARS (methionyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000166986
EnsemblGeneIds (GRCh37): ENSG00000166986
OMIM: 156560, Gene2Phenotype
MARS is in 9 panels

1 review

Mafalda Gomes (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for MARS is MARS1
Created: 25 Oct 2023, 9:01 a.m. | Last Modified: 25 Oct 2023, 9:01 a.m.

Panel Version: 0.250

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

PMID: 25913036 - 1 family PMID: 34585293 - 1 family PMID: 30271085 - refer to 34 cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.250

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber

Phenotypes

Interstitial lung and liver disease

Tags

new-gene-name

OMIM

Clinvar variants

Variants in MARS

Penetrance

None

Panels with this gene

History Filter Activity

25 Oct 2023, Gel status: 2

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag new-gene-name tag was added to gene: MARS.

25 Oct 2023, Gel status: 2

Removed Tag, Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag different_gene_name was removed from gene: MARS. Tag MARS1 was removed from gene: MARS.

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to MARS. Added phenotypes Interstitial lung and liver disease for gene: MARS Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to MARS. Added phenotypes Interstitial lung and liver disease for gene: MARS Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to MARS. Added phenotypes Interstitial lung and liver disease for gene: MARS Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to MARS. Added phenotypes Interstitial lung and liver disease for gene: MARS Rating Changed from No List (delete) to Green List (high evidence)

27 Mar 2023, Gel status: 0

Added Tag, Added Tag

Mafalda Gomes (Genomics England Curator)

Tag different_gene_name tag was added to gene: MARS. Tag MARS1 tag was added to gene: MARS.

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: MARS was added gene: MARS was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: MARS was set to BIALLELIC, autosomal or pseudoautosomal