Genomics England

PARS2

prolyl-tRNA synthetase 2, mitochondrial

OMIM: 612036

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 6.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Epileptic encephalopathy, early infantile, 75, 618437
Green in Likely inborn error of metabolism 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 6.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Epileptic encephalopathy, early infantile, 75, 618437Alpers syndrome., Epileptic encephalopathy, early infantile, 75, 618437, Alpers syndrome
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 7.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Alpers syndrome, Epileptic encephalopathy, early infantile, 75, 618437
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Infantile-onset encephalopathy, Alpers syndrome, Infantile-onset neurodegenerative disorder, Epileptic encephalopathy, early infantile, 75, 61843