Activity

Filter

Cancel
Date Panel Item Activity
12 actions
Severe Paediatric Disorders v0.17 HIST1H1E Louise Daugherty Mode of inheritance for gene HIST1H1E was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.12 HIST1H1E Louise Daugherty edited their review of gene: HIST1H1E: 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: H1-4; Recommended initial gene rating: Green List (high evidence); Phenotypes: Rahman syndrome, 617537 (3); Mode of inheritance: Autosomal dominant; Changed rating: AMBER
Severe Paediatric Disorders v0.11 HIST1H1E Louise Daugherty Publications for gene HIST1H1E were updated from to 30847515
Severe Paediatric Disorders v0.10 HIST1H1E Louise Daugherty Added phenotypes Rahman syndrome, 617537 for gene: HIST1H1E
Severe Paediatric Disorders v0.9 HIST1H1E Louise Daugherty Added phenotypes Rahman syndrome, 617537 for gene: HIST1H1E
Severe Paediatric Disorders v0.9 HIST1H1E Louise Daugherty Added phenotypes Rahman syndrome, 617537 for gene: HIST1H1E
Severe Paediatric Disorders v0.8 HIST1H1E Louise Daugherty Added phenotypes Rahman syndrome, 617537 for gene: HIST1H1E
Severe Paediatric Disorders v0.7 HIST1H1E Louise Daugherty commented on gene: HIST1H1E
Severe Paediatric Disorders v0.7 HIST1H1E Louise Daugherty Source Next Generation Children Project was added to HIST1H1E.
Severe Paediatric Disorders v0.6 HIST1H1E Louise Daugherty Tag new-gene-name tag was added to gene: HIST1H1E.
Severe Paediatric Disorders v0.5 HIST1H1E Louise Daugherty Source Expert Review Green was added to HIST1H1E.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 HIST1H1E Louise Daugherty gene: HIST1H1E was added
gene: HIST1H1E was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: HIST1H1E was set to