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Hereditary Spastic Paraplegia - paediatric

Gene: MARS

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Second family with two affected sibs and compound heterozygous missense variants reported; no functional data.
Created: 23 Apr 2023, 9:36 a.m. | Last Modified: 23 Apr 2023, 9:36 a.m.
Panel Version: 1.58

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 70, autosomal recessive, MIM# 620323

Publications

Created: 23 Apr 2023, 9:36 a.m.
Last Modified: 23 Apr 2023, 9:36 a.m.
Panel version: 1.58

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

A single family reported.
Created: 19 Apr 2020, 11:13 a.m. | Last Modified: 19 Apr 2020, 11:13 a.m.
Panel Version: 0.74

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hereditary spastic paraplegia

Publications

Created: 19 Apr 2020, 11:13 a.m.
Last Modified: 19 Apr 2020, 11:13 a.m.
Panel version: 0.74

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 70, autosomal recessive, MIM# 620323
OMIM
156560
Clinvar variants
Variants in MARS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Apr 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MARS were changed from Complicated hereditary spastic paraplegia; Charcot-Marie-Tooth disease, axonal, type 2U, MIM# 616280 to Spastic paraplegia 70, autosomal recessive, MIM# 620323

23 Apr 2023, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MARS were set to 24482476

23 Apr 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mars has been classified as Amber List (Moderate Evidence).

13 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mars has been classified as Red List (Low Evidence).

13 Mar 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MARS were changed from Complicated hereditary spastic paraplegia to Complicated hereditary spastic paraplegia; Charcot-Marie-Tooth disease, axonal, type 2U, MIM# 616280

31 Dec 2019, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MARS was added gene: MARS was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: MARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MARS were set to 24482476 Phenotypes for gene: MARS were set to Complicated hereditary spastic paraplegia