Possible mitochondrial disorder - nuclear genes
Gene: HARS2
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
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
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.
Gene: hars2 has been classified as Green List (High Evidence).
Publications for gene: HARS2 were set to 21464306; 27650058
Publications for gene: HARS2 were set to
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