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Severe Paediatric Disorders

Gene: RARS

Green List (high evidence)

RARS (arginyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000113643
EnsemblGeneIds (GRCh37): ENSG00000113643
OMIM: 107820, Gene2Phenotype
RARS is in 5 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: RARS; Recommended initial gene rating: Green List (high evidence); Phenotypes: Leukodystrophy, hypomyelinating, 9, 616140 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:24 p.m. | Last Modified: 20 Feb 2020, 5:24 p.m.
Panel Version: 0.12
Added new-gene-name tag, new approved HGNC gene symbol for RARS is RARS1 (current gene symbol submitted by Next Generation Children Project)
Created: 17 Feb 2020, 10:42 a.m. | Last Modified: 17 Feb 2020, 10:42 a.m.
Panel Version: 0.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating, 9, 616140
Tags
new-gene-name
OMIM
107820
Clinvar variants
Variants in RARS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene RARS were updated from to 30847515

20 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene RARS was changed from to BIALLELIC, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Leukodystrophy, hypomyelinating, 9, 616140 for gene: RARS

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Leukodystrophy, hypomyelinating, 9, 616140 for gene: RARS

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Leukodystrophy, hypomyelinating, 9, 616140 for gene: RARS

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Leukodystrophy, hypomyelinating, 9, 616140 for gene: RARS

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to RARS.

14 Feb 2020, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

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

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to RARS. 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: RARS was added gene: RARS was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: RARS was set to