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Hereditary Neuropathy_CMT - isolated v0.59 | GARS | Zornitza Stark Marked gene: GARS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Neuropathy_CMT - isolated v0.59 | GARS | Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is GARS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Neuropathy_CMT - isolated v0.59 | GARS | Zornitza Stark Gene: gars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Neuropathy_CMT - isolated v0.59 | GARS | Zornitza Stark Phenotypes for gene: GARS were changed from HMSN, dHMN/dSMA; Neuropathy, distal hereditary motor, type V, 600794; Charcot Marie Tooth disease, type 2D, 601472 to 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Neuropathy_CMT - isolated v0.58 | GARS | Zornitza Stark Publications for gene: GARS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Neuropathy_CMT - isolated v0.57 | GARS | Zornitza Stark Tag new gene name tag was added to gene: GARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Neuropathy_CMT - isolated v0.57 | GARS | Zornitza Stark reviewed gene: GARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 17101916, 22462675, 31985473, 32181591, 12690580, 25168514, 26503042, 29648643, 16982418; Phenotypes: Spinal muscular atrophy, infantile, James type, MIM# 619042, Charcot-Marie-Tooth disease, type 2D, MIM# 601472, Neuronopathy, distal hereditary motor, type VA, MIM# 600794; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Neuropathy_CMT - isolated v0.0 | GARS |
Bryony Thompson gene: GARS was added gene: GARS was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: GARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GARS were set to HMSN, dHMN/dSMA; Neuropathy, distal hereditary motor, type V, 600794; Charcot Marie Tooth disease, type 2D, 601472 |