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Inborn errors of metabolism

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

5 reviews

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Created: 19 Sep 2019, 3:22 p.m. | Last Modified: 19 Sep 2019, 3:22 p.m.
Panel Version: 1.302
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: 19 Sep 2019, 3:20 p.m. | Last Modified: 19 Sep 2019, 3:20 p.m.
Panel Version: 1.301
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: 19 Sep 2019, 3:19 p.m. | Last Modified: 19 Sep 2019, 3:19 p.m.
Panel Version: 1.300

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

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

HARS2 gene encodes a histidyl tRNA synthetase. Only 2 cases reported.
Created: 23 Feb 2017, 5:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Perrault syndrome 2 614926

Publications

Ellen McDonagh (Genomics England Curator)

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, 5:21 p.m.
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, 5:19 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
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • ?Perrault syndrome 2 614926
  • Perrault syndrome 2, 614926
OMIM
600783
Clinvar variants
Variants in HARS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source, Set Phenotypes, Set publications, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to HARS2. Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Perrault syndrome 2, 614926 for gene: HARS2 Publications for gene HARS2 were changed from 27604308 to 27650058; 21464306 Rating Changed from Red List (low evidence) to Green List (high evidence)

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to HARS2. Source London North GLH was added to HARS2.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Perrault syndrome 2, 614926 for gene: HARS2

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: HARS2 was added gene: HARS2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: HARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HARS2 were set to 27604308 Phenotypes for gene: HARS2 were set to ?Perrault syndrome 2 614926; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))