Genomics England
GMS Panels
Panels
Genes and Entities

HARS2

histidyl-tRNA synthetase 2, mitochondrial
OMIM: 600783
PanelMode of inheritanceDetails
4 panels
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.0
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
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Perrault syndrome 2, 614926
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Perrault syndrome 2, OMIM:614926
Green
in Possible mitochondrial disorder - nuclear genes
R-numbers: R63
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Perrault syndrome 2, 614926