This Panel is marked as Internal
Intellectual disability update Jan 2018
Gene: MARS2
MARS2 (methionyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000247626
EnsemblGeneIds (GRCh37): ENSG00000247626
OMIM: 609728, Gene2Phenotype
MARS2 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000247626
EnsemblGeneIds (GRCh37): ENSG00000247626
OMIM: 609728, Gene2Phenotype
MARS2 is in 13 panels
1 review
Eleanor Williams (Genomics England Curator)
Comment on list classification: In OMIM it is associated with ?Combined oxidative phosphorylation deficiency 25 (MIM 616430) and Spastic ataxia 3, autosomal recessive (MIM 611390). One family with two children with Combined oxidative phosphorylation deficiency 25 both with global developmental delay (Webb et al 2015 PMID:25754315). Not enough evidence to rate as amber.Created: 27 Feb 2018, 4:59 p.m.
Details
- Sources
-
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
- Phenotypes
-
- ?Combined oxidative phosphorylation deficiency 25 (616430) (global developmental delay)
- OMIM
- 609728
- Clinvar variants
- Variants in MARS2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Hereditary spastic paraplegia
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Ataxia and cerebellar anomalies - narrow panel
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
History Filter Activity
27 Feb 2018, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for MARS2 were set to ?Combined oxidative phosphorylation deficiency 25 (616430) (global developmental delay)
27 Feb 2018, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for MARS2 were set to ?Combined oxidative phosphorylation deficiency 25 (616430), global developmental delay
27 Feb 2018, Gel status: 1
Set publications
Eleanor Williams (Genomics England Curator)Publications for MARS2 were set to 25754315
27 Feb 2018, Gel status: 1
Gene classified by Genomics England curator
Eleanor Williams (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
18 Dec 2017, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)MARS2 was added to Intellectual disability update Jan 2018 panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Amber
18 Dec 2017, Gel status: 2
Created
Ellen McDonagh (Genomics England Curator)MARS2 was created by Ellen McDonagh