AARS

alanyl-tRNA synthetase
OMIM: 601065
PanelMode of inheritanceDetails
4 panels
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 29 616339
R-numbers: R78
Signed-off version 1.36
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287, Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT.
R-numbers: R62
Signed-off version 1.25
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2N, 613287