Genomics England

RARS2

arginyl-tRNA synthetase 2, mitochondrial

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes epilepsy, Pontocerebellar hypoplasia, type 6, 611523, Pontocerebellar Hypoplasia type 6, Pontocerebellar hypoplasia, Pontocerebellar Hypoplasia
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PONTOCEREBELLAR HYPOPLASIA TYPE 6 318922
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 5.10	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Pontocerebellar hypoplasia, type 6, 611523
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PONTOCEREBELLAR HYPOPLASIA TYPE 6
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes epilepsy, Pontocerebellar hypoplasia, Pontocerebellar hypoplasia 6, 611523
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Pontocerebellar hypoplasia, type 6, 611523, PONTOCEREBELLAR HYPOPLASIA TYPE 6
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 5.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Pontocerebellar hypoplasia, type 6, 611523, Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Green in Mitochondrial disorders 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), Pontocerebellar hypoplasia, type 6, 611523
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Pontocerebellar hypoplasia, type 6, 611523