Activity

Filter

Cancel
Date Panel Item Activity
12 actions
Severe Paediatric Disorders v0.17 KARS Louise Daugherty Mode of inheritance for gene KARS was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 KARS Louise Daugherty edited their review of gene: KARS: 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: KARS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 (3) | Deafness, autosomal recessive 89, 613916 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.11 KARS Louise Daugherty Publications for gene KARS were updated from to 30847515
Severe Paediatric Disorders v0.10 KARS Louise Daugherty Added phenotypes ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641; Deafness, autosomal recessive 89, 613916 for gene: KARS
Severe Paediatric Disorders v0.9 KARS Louise Daugherty Added phenotypes ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641; Deafness, autosomal recessive 89, 613916 for gene: KARS
Severe Paediatric Disorders v0.9 KARS Louise Daugherty Added phenotypes ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641; Deafness, autosomal recessive 89, 613916 for gene: KARS
Severe Paediatric Disorders v0.8 KARS Louise Daugherty Added phenotypes ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641; Deafness, autosomal recessive 89, 613916 for gene: KARS
Severe Paediatric Disorders v0.7 KARS Louise Daugherty commented on gene: KARS
Severe Paediatric Disorders v0.7 KARS Louise Daugherty Source Next Generation Children Project was added to KARS.
Severe Paediatric Disorders v0.6 KARS Louise Daugherty Tag new-gene-name tag was added to gene: KARS.
Severe Paediatric Disorders v0.5 KARS Louise Daugherty Source Expert Review Green was added to KARS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 KARS Louise Daugherty gene: KARS was added
gene: KARS was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: KARS was set to