Genomics England
GMS Panels
Panels
Genes and Entities

IARS

isoleucyl-tRNA synthetase
OMIM: 600709
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093
Green
in Paediatric disorders - additional genes
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093, Microcephaly