QARS1

glutaminyl-tRNA synthetase 1
OMIM: 603727, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green QARS1 in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760
Green QARS1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760
Green QARS1 in Mitochondrial disease Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760
Green QARS1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760
Green QARS1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 (3) Tags new gene name
Green QARS1 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760
Green QARS1 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy MIM#615760