HARS2

histidyl-tRNA synthetase 2, mitochondrial
OMIM: 600783
PanelMode of inheritanceDetails
3 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
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
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Perrault syndrome 2, 614926
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Perrault syndrome 2, 614926