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Severe Paediatric Disorders v0.12 RARS2 Louise Daugherty reviewed gene: RARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 RARS Louise Daugherty edited their review of gene: RARS: Added comment: 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; Changed rating: AMBER
Severe Paediatric Disorders v0.11 RARS2 Louise Daugherty Publications for gene RARS2 were updated from to 30847515
Severe Paediatric Disorders v0.11 RARS Louise Daugherty Publications for gene RARS were updated from to 30847515
Severe Paediatric Disorders v0.11 RARS2 Louise Daugherty Mode of inheritance for gene RARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RARS Louise Daugherty Mode of inheritance for gene RARS was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.10 RARS2 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 6, 611523 for gene: RARS2
Severe Paediatric Disorders v0.10 RARS Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 9, 616140 for gene: RARS
Severe Paediatric Disorders v0.9 RARS2 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 6, 611523 for gene: RARS2
Severe Paediatric Disorders v0.9 RARS Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 9, 616140 for gene: RARS
Severe Paediatric Disorders v0.9 RARS2 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 6, 611523 for gene: RARS2
Severe Paediatric Disorders v0.9 RARS Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 9, 616140 for gene: RARS
Severe Paediatric Disorders v0.8 RARS2 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 6, 611523 for gene: RARS2
Severe Paediatric Disorders v0.8 RARS Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 9, 616140 for gene: RARS
Severe Paediatric Disorders v0.7 RARS Louise Daugherty commented on gene: RARS
Severe Paediatric Disorders v0.7 RARS2 Louise Daugherty Source Next Generation Children Project was added to RARS2.
Severe Paediatric Disorders v0.7 RARS Louise Daugherty Source Next Generation Children Project was added to RARS.
Severe Paediatric Disorders v0.6 RARS Louise Daugherty Tag new-gene-name tag was added to gene: RARS.
Severe Paediatric Disorders v0.5 RARS2 Louise Daugherty Source Expert Review Green was added to RARS2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 RARS Louise Daugherty Source Expert Review Green was added to RARS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 RARS2 Louise Daugherty gene: RARS2 was added
gene: RARS2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: RARS2 was set to
Severe Paediatric Disorders v0.4 RARS Louise Daugherty gene: RARS was added
gene: RARS was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: RARS was set to