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Research panel - Severe Paediatric Disorders

Gene: GARS

Green List (high evidence)
GARS (glycyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000106105
EnsemblGeneIds (GRCh37): ENSG00000106105
OMIM: 600287, Gene2Phenotype
GARS is in 9 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: GARS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Charcot-Marie-Tooth disease, type 2D, 601472 (3) | Neuropathy, distal hereditary motor, type VA, 600794 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.
Panel Version: 0.12
Added new-gene-name tag, new approved HGNC gene symbol for GARS is GARS1 (current gene symbol submitted by Next Generation Children Project)
Created: 17 Feb 2020, 10:16 a.m. | Last Modified: 17 Feb 2020, 10:16 a.m.
Panel Version: 0.7
Created: 17 Feb 2020, 10:16 a.m.
Last Modified: 17 Feb 2020, 10:16 a.m.
Panel version: 0.12

Details

Mode of Inheritance
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
OMIM
600287
Clinvar variants
Variants in GARS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene GARS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene GARS were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Charcot-Marie-Tooth disease, type 2D, 601472; Neuropathy, distal hereditary motor, type VA, 600794 for gene: GARS

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Charcot-Marie-Tooth disease, type 2D, 601472; Neuropathy, distal hereditary motor, type VA, 600794 for gene: GARS

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Charcot-Marie-Tooth disease, type 2D, 601472; Neuropathy, distal hereditary motor, type VA, 600794 for gene: GARS

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Neuropathy, distal hereditary motor, type VA, 600794; Charcot-Marie-Tooth disease, type 2D, 601472 for gene: GARS

14 Feb 2020, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: GARS.

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to GARS.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to GARS. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: GARS was added gene: GARS was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: GARS was set to