RARS

arginyl-tRNA synthetase
OMIM: 107820
PanelMode of inheritanceDetails
3 panels
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 9 616140
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
Cerebral hypomyelination, Global developmental delay, Intellectual disability, Seizures, Cerebral atrophy, Nystagmus, Ataxia, Feeding difficulties
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 9 616140