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Possible mitochondrial disorder - nuclear genes

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

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 24, 616239

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.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 24, 616239
OMIM
612803
Clinvar variants
Variants in NARS2
Penetrance
None
Panels with this gene

History Filter Activity

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: NARS2 was added gene: NARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NARS2 were set to Combined oxidative phosphorylation deficiency 24, 616239