IARS

isoleucyl-tRNA synthetase
OMIM: 600709
PanelMode of inheritanceDetails
4 panels
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093
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
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093
R-numbers: R88
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093, Microcephaly