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Possible mitochondrial disorder - nuclear genes

Gene: HARS2

Green List (high evidence)

HARS2 (histidyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000112855
EnsemblGeneIds (GRCh37): ENSG00000112855
OMIM: 600783, Gene2Phenotype
HARS2 is in 8 panels

4 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
?Perrault syndrome 2, 614926

Zornitza Stark (Australian Genomics)

I don't know

Found a second publication, and also another couple P/LP variants reported in ClinVar. Probably merits Amber.
Created: 30 Aug 2018, 4:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perrault syndrome 2, MIM#614926

Publications

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene was discussed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019. It was confirmed that Perrault syndrome was relevant for this panel, and that there was enough evidence for the gene to be Green.
Created: 25 Feb 2019, 5:16 p.m.
Comment on publications: PMID: 21464306: One family reported, with five affected siblings who were compound heterozygous for variants L200V and V368L. Functional evidence in c.elegans was provided. PMID: 27650058: patients with sporadic Perrault syndrome IV-1 and VI-I were homozygous for the c.1010A>G (p.Tyr337Cys) variant. The patients were claimed not to be related, but originated from the same region in Morocco and the variant was characterised as being in the same haplotype, suggesting a founder effect. Found at a frequency of 1/121332 in Exac.
Created: 25 Feb 2019, 1:25 p.m.
Comment when marking as ready: Reviewed for the congenital hearing panel, and there is currently not enough evidence to promote this gene from red to green.
Created: 2 Mar 2016, 12:26 p.m.
Comment on mode of inheritance: Sourced from OMIM.
Created: 2 Mar 2016, 12:26 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Perrault syndrome 2, 614926
OMIM
600783
Clinvar variants
Variants in HARS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Feb 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: hars2 has been classified as Green List (High Evidence).

25 Feb 2019, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: HARS2 were set to 21464306; 27650058

25 Feb 2019, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: HARS2 were set to

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: HARS2 was added gene: HARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: HARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HARS2 were set to ?Perrault syndrome 2, 614926