Genomics England

LARS2

leucyl-tRNA synthetase 2, mitochondrial

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Ataxia and cerebellar anomalies - childhood onset Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies, childhood onset Signed-off version 9.22	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Perrault syndrome 4, OMIM:615300
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PERRAULT SYNDROME
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021
Green in Leukodystrophy, adult onset R-numbers: R62 Signed-off version 7.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Perrault syndrome 4, OMIM:615300, Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021, Leukodystrophy
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Perrault syndrome 4, OMIM:615300, Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021, Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only), Multiple respiratory chain complex deficiencies (disorders of protein synthesis
Green in Mitochondrial disorders Component of the following Super Panels: - Leukodystrophy, childhood onset Signed-off version 10.18	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Perrault syndrome 4, OMIM:615300, Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021, Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only), Multiple respiratory chain complex deficiencies (disorders of protein synthesis
Green in Monogenic hearing loss Component of the following Super Panels: - Paediatric disorders R-numbers: R67 Signed-off version 6.34	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Perrault syndrome 4, OMIM:615300
Green in Possible mitochondrial disorder, nuclear genes R-numbers: R63 Signed-off version 5.17	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Perrault syndrome 4, OMIM:615300, Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021, Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only), Multiple respiratory chain complex deficiencies (disorders of protein synthesis
Green in Rare anaemia R-numbers: R92 Signed-off version 4.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021