Genomics England
GMS Panels
Panels
Genes and Entities

RARS2

arginyl-tRNA synthetase 2, mitochondrial
OMIM: 611524
PanelMode of inheritanceDetails
9 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 3.1
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 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PONTOCEREBELLAR HYPOPLASIA TYPE 6 318922
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PONTOCEREBELLAR HYPOPLASIA TYPE 6
Green
in Genetic epilepsy syndromes
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia, type 6, 611523
Green
in Hereditary ataxia - adult onset
R-numbers: R54
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
epilepsy, Pontocerebellar hypoplasia, Pontocerebellar hypoplasia 6, 611523
Green
in Inborn errors of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
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 Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia, type 6, 611523, PONTOCEREBELLAR HYPOPLASIA TYPE 6
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 3.1
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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia, type 6, 611523