GARS

glycyl-tRNA synthetase
OMIM: 600287, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Red GARS in Neuromuscular disorders Version 5.47 Signed off v.5.43 on 4 Mar 2020	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Distal Spinal Muscular Atrophy Tags new-gene-name
Red GARS in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 3.11 Signed off v.3.2 on 13 Feb 2020	review	Not set	Sources Expert Review Red Expert list Tags new-gene-name
Green GARS in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.414	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Charcot-Marie-Tooth disease, type 2D Neuropathy, distal hereditary motor, type VA Tags new-gene-name
Green GARS in Inborn errors of metabolism Version 2.8 Signed off v.2.3 on 17 Feb 2020 Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Charcot-Marie-Tooth disease, type 2D Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Neuropathy, distal hereditary motor, type VA Tags new-gene-name
Green GARS in Possible mitochondrial disorder - nuclear genes Version 1.15 Signed off v.1.13 on 17 Feb 2020	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Phenotypes Neuropathy, distal hereditary motor, type VA, 600794 Charcot-Marie-Tooth disease, type 2D, 601472 Tags new-gene-name
Red GARS in Paediatric motor neuronopathies Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.32 Signed off v.1.30 on 4 Mar 2020 Component of the following Super Panels: Hypotonic infant Neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert Illumina TruGenome Clinical Sequencing Services Phenotypes Distal Spinal Muscular Atrophy Tags new-gene-name
Green GARS in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.368	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources South West GLH NHS GMS London North GLH Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Expert list Illumina TruGenome Clinical Sequencing Services Phenotypes Neuropathy, distal hereditary motor, type V, 600794 Neuropathy, distal hereditary motor, type V, 600794 Charcot Marie Tooth disease, type 2D, 601472 Tags new-gene-name
Green GARS in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 2.6 Signed off v.2.4 on 17 Feb 2020 Component of the following Super Panels: White matter disorders - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Expert list Expert Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Charcot-Marie-Tooth disease, type 2D Neuropathy, distal hereditary motor, type VA Tags treatable new-gene-name
Green GARS in Hereditary neuropathy NOT PMP22 copy number Version 1.4 Signed off v.1.2 on 27 Feb 2020	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Radboud University Medical Center, Nijmegen South West GLH Expert Review Green UKGTN Emory Genetics Laboratory Expert list London North GLH Illumina TruGenome Clinical Sequencing Services NHS GMS South West GLH NHS GMS London North GLH Phenotypes Neuropathy, distal hereditary motor, type V, 600794 Charcot Marie Tooth disease, type 2D, 601472 Tags new-gene-name
Red GARS in Childhood onset dystonia or chorea or related movement disorder Version 1.4 Signed off v.1.2 on 25 Feb 2020	review	Not set	Sources Expert Review Red London North GLH Expert Review Red London North GLH Tags new-gene-name
Green GARS in Severe Paediatric Disorders Version 1.6	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Charcot-Marie-Tooth disease, type 2D, 601472 Neuropathy, distal hereditary motor, type VA, 600794 Tags new-gene-name