IARS

isoleucyl-tRNA synthetase
OMIM: 600709, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Amber IARS in Cholestasis Level 2: Gastroenterological disorders Version 1.8 Component of the following Super Panels: Liverome Superpanel	2 reviews	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 1.4216	1 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 1.405	1 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 Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Version 1.3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093
Green IARS in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.638	1 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 0.111	0 reviews	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 1.33 Component of the following Super Panels: Liverome Superpanel	1 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 1.522	2 reviews	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 2.15	1 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 Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.147	1 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