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  3. NARS2
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Mitochondrial disorders

Gene: NARS2

Green List (high evidence)
NARS2 (asparaginyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000137513
EnsemblGeneIds (GRCh37): ENSG00000137513
OMIM: 612803, Gene2Phenotype
NARS2 is in 8 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Carl Fratter also confirmed that this gene should be promoted from red to green.
Created: 7 Mar 2016, 6:04 p.m.
Created: 7 Mar 2016, 6:04 p.m.

Panel version: 0.497

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:32 a.m.

Panel version: 0.37

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 24
OMIM
612803
Clinvar variants
Variants in NARS2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Aug 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to NARS2. Panel: Mitochondrial disorders

20 Apr 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for NARS2 were set to PMID: 25385316; 25629079; 25807530

7 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Mar 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for NARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 24

7 Mar 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for NARS2 were set to PMID: 25385316; 25629079; 25807530

7 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for NARS2 was changed to BIALLELIC, autosomal or pseudoautosomal

7 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

30 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NARS2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen

30 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NARS2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen