IARS

isoleucyl-tRNA synthetase
OMIM: 600709, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Amber IARS in Cholestasis Level 2: Gastroenterological disorders Version 1.0 Component of the following Super Panels: Liverome Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093 Tags new gene name
Green IARS in Mendeliome Version 1.2374	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093 Tags new gene name
Green IARS in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.301	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM# 617093 Tags new gene name
Green IARS in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093 Tags new gene name
Green IARS in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093 (3), Autosomal recessive
Green IARS in Liver Failure_Paediatric Level 2: Gastroenterological disorders Version 1.24 Component of the following Super Panels: Liverome Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM# 617093
Green IARS in Fetal anomalies Version 1.314	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, OMIM# 617093
Green IARS in Prepair 1000+ Level 2: Screening Version 1.1586	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093
Amber IARS in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093 Tags treatable metabolic