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Mendeliome

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

Eleanor Williams (Genomics England)

PMID: 33909043 - Botta et al 2021 - using WES/WGS analysis of 34 unsolved cases with multi-system phenotypes, but with hair alterations that are typical of trichothiodystrophy but no reported photosensitivity, they identified a homozygous variant in one Italian patient (c.1201G > A (p.Val401Me) that is very rare (gnomAD frequency 0.00001414). Functional studies suggest that the variant affects gene product stability.
Created: 7 Oct 2021, 12:11 p.m. | Last Modified: 7 Oct 2021, 12:11 p.m.
Panel Version: 0.9347

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
trichothiodystrophy, MONDO:0018053

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

The mono-allelic gene-disease associations have LIMITED evidence.
Created: 19 Apr 2024, 6:46 a.m. | Last Modified: 19 Apr 2024, 6:46 a.m.
Panel Version: 1.1712
Six individuals from two unrelated families reported with SPG.
Created: 23 Apr 2023, 9:37 a.m. | Last Modified: 23 Apr 2023, 9:37 a.m.
Panel Version: 1.814
Comment when marking as ready: New HGNC approved gene name is MARS1.
Created: 8 Oct 2021, 2:37 a.m. | Last Modified: 8 Oct 2021, 2:37 a.m.
Panel Version: 0.9354
Association with interstitial lung and liver disease and bi-allelic variants: 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.
Created: 8 Oct 2021, 2:28 a.m. | Last Modified: 8 Oct 2021, 2:29 a.m.
Panel Version: 0.9351
Association with CMT and mono-allelic variants: Two families reported. One mutation positive family member was asymptomatic. Second case is proband only testing with no segregation or functional data. Note one of the variants identified in dominant MARS1-associated neuropathy, p.Arg618Cys, has also been reported in AR MARS1-related pulmonary interstiatial/liver disease.
Created: 1 Apr 2020, 9:05 a.m. | Last Modified: 8 Oct 2021, 2:29 a.m.
Panel Version: 0.9351

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Interstitial lung and liver disease, MIM#615486; Charcot-Marie-Tooth disease, axonal, type 2U, MIM# 616280; Spastic paraplegia 70, autosomal recessive, MIM# 620323

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Interstitial lung and liver disease, MIM#615486
  • Charcot-Marie-Tooth disease, axonal, type 2U, MIM# 616280
  • Trichothiodystrophy 9, nonphotosensitive, MIM# 619692
  • Spastic paraplegia 70, autosomal recessive, MIM# 620323
Tags
new gene name
OMIM
156560
Clinvar variants
Variants in MARS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Apr 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MARS was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

23 Apr 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MARS were changed from Interstitial lung and liver disease, MIM#615486; Charcot-Marie-Tooth disease, axonal, type 2U, MIM# 616280; Trichothiodystrophy 9, nonphotosensitive, MIM# 619692 to Interstitial lung and liver disease, MIM#615486; Charcot-Marie-Tooth disease, axonal, type 2U, MIM# 616280; Trichothiodystrophy 9, nonphotosensitive, MIM# 619692; Spastic paraplegia 70, autosomal recessive, MIM# 620323

23 Apr 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MARS were set to 23729695; 24354524; 29655802; 24103465; 25913036; 33909043

10 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MARS were changed from Interstitial lung and liver disease, MIM#615486; Charcot-Marie-Tooth disease, axonal, type 2U, MIM# 616280; Trichothiodystrophy, MONDO:0018053 to Interstitial lung and liver disease, MIM#615486; Charcot-Marie-Tooth disease, axonal, type 2U, MIM# 616280; Trichothiodystrophy 9, nonphotosensitive, MIM# 619692

8 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).

8 Oct 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

8 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).

8 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; Charcot-Marie-Tooth disease, axonal, type 2U, MIM# 616280; Trichothiodystrophy, MONDO:0018053

8 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MARS were set to

8 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 BOTH monoallelic and 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 Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MARS was set to Unknown