IARS

isoleucyl-tRNA synthetase
OMIM: 600709, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Amber IARS in Neonatal cholestasis Level 3: Liver disease Level 2: Gastroenterological disorders Version 1.26	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 617093 Tags new-gene-name
Amber IARS in Cholestasis Version 3.4 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093 Tags new-gene-name
Green IARS in Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 4.88 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Other Phenotypes Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093 Microcephaly Tags new-gene-name
Green IARS in Fetal anomalies Version 3.169 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093 Tags new-gene-name
Green IARS in DDG2P Version 3.90 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy Tags new-gene-name
Green IARS in Paediatric disorders - additional genes Version 3.10 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093 Tags new-gene-name
Green IARS in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.557 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Phenotypes Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093 Tags new-gene-name
Red IARS in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 4.169 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	Not set	Sources Expert list Tags new-gene-name
Green IARS in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093 Tags new-gene-name