Mitochondrial disorders
Gene: HARS2
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 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.
Publications for gene: HARS2 were set to
Gene: hars2 has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for HARS2 was changed to BIALLELIC, autosomal or pseudoautosomal
HARS2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
HARS2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
HARS2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen