AARS2

alanyl-tRNA synthetase 2, mitochondrial
OMIM: 612035
PanelMode of inheritanceDetails
7 panels
R-numbers: R62
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy, progressive, with ovarian failure, 615889
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy, progressive, with ovarian failure, OMIM:615889, Combined oxidative phosphorylation deficiency 8, OMIM:614096, fetal hydrops, cardiomyopathy, polyhydramnios, pulmonary effusion
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 5.6
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), Combined oxidative phosphorylation deficiency 8, 614096, infantile mitochondrial cardiomyopathy
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Combined oxidative phosphorylation deficiency 8, 614096, infantile mitochondrial cardiomyopathy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 8, 614096, infantile mitochondrial cardiomyopathy, Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only), Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
R-numbers: R63
Signed-off version 3.105
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 8, 614096, Leukoencephalopathy, progressive, with ovarian failure, 615889
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy with ovarian failure, General Leukodystrophy & Mitochondrial Leukoencephalopathy