GARS1

glycyl-tRNA synthetase 1
OMIM: 600287, ClinGen, DECIPHER

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Green GARS1 in Mendeliome Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial disease (MONDO:0044970), GARS1-related Spinal muscular atrophy, infantile, James type, MIM# 619042 Charcot-Marie-Tooth disease, type 2D, MIM# 601472 Neuronopathy, distal hereditary motor, type VA, MIM# 600794 Multi-system mitochondrial disorder Tags new gene name
Green GARS1 in Mitochondrial disease Level 2: Metabolic disorders Version 2.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial disease (MONDO:0044970), GARS1-related Spinal muscular atrophy, infantile, James type, MIM# 619042 Charcot-Marie-Tooth disease, type 2D, MIM# 601472 Neuronopathy, distal hereditary motor, type VA, MIM# 600794 Multi-system mitochondrial disorder Tags new gene name
Green GARS1 in Hereditary Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Phenotypes HMSN, dHMN/dSMA Spinal muscular atrophy, infantile, James type, MIM# 619042 Neuropathy, distal hereditary motor, type V, 600794 Charcot Marie Tooth disease, type 2D, 601472 Tags new gene name