Activity

Filter

Cancel
Date Panel Item Activity
12 actions
Severe Paediatric Disorders v0.12 DFNB59 Louise Daugherty edited their review of gene: DFNB59: 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: PJVK; Recommended initial gene rating: Green List (high evidence); Phenotypes: Deafness, autosomal recessive 59, 610220 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.11 DFNB59 Louise Daugherty Publications for gene DFNB59 were updated from to 30847515
Severe Paediatric Disorders v0.11 DFNB59 Louise Daugherty Mode of inheritance for gene DFNB59 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.10 DFNB59 Louise Daugherty Added phenotypes Deafness, autosomal recessive 59, 610220 for gene: DFNB59
Severe Paediatric Disorders v0.9 DFNB59 Louise Daugherty Added phenotypes Deafness, autosomal recessive 59, 610220 for gene: DFNB59
Severe Paediatric Disorders v0.9 DFNB59 Louise Daugherty Added phenotypes Deafness, autosomal recessive 59, 610220 for gene: DFNB59
Severe Paediatric Disorders v0.8 DFNB59 Louise Daugherty Added phenotypes Deafness, autosomal recessive 59, 610220 for gene: DFNB59
Severe Paediatric Disorders v0.7 DFNB59 Louise Daugherty commented on gene: DFNB59
Severe Paediatric Disorders v0.7 DFNB59 Louise Daugherty Source Next Generation Children Project was added to DFNB59.
Severe Paediatric Disorders v0.6 DFNB59 Louise Daugherty Tag new-gene-name tag was added to gene: DFNB59.
Severe Paediatric Disorders v0.5 DFNB59 Louise Daugherty Source Expert Review Green was added to DFNB59.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 DFNB59 Louise Daugherty gene: DFNB59 was added
gene: DFNB59 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: DFNB59 was set to