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Severe Paediatric Disorders v0.17 HFE2 Louise Daugherty Mode of inheritance for gene HFE2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HFE Louise Daugherty Mode of inheritance for gene HFE was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 HFE2 Louise Daugherty edited their review of gene: HFE2: 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: HJV; Recommended initial gene rating: Green List (high evidence); Phenotypes: Hemochromatosis, type 2A, 602390 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 HFE Louise Daugherty reviewed gene: HFE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 HFE2 Louise Daugherty Publications for gene HFE2 were updated from to 30847515
Severe Paediatric Disorders v0.11 HFE Louise Daugherty Publications for gene HFE were updated from to 30847515
Severe Paediatric Disorders v0.10 HFE2 Louise Daugherty Added phenotypes Hemochromatosis, type 2A, 602390 for gene: HFE2
Severe Paediatric Disorders v0.10 HFE Louise Daugherty Added phenotypes Hemochromatosis, 235200 for gene: HFE
Severe Paediatric Disorders v0.9 HFE2 Louise Daugherty Added phenotypes Hemochromatosis, type 2A, 602390 for gene: HFE2
Severe Paediatric Disorders v0.9 HFE Louise Daugherty Added phenotypes Hemochromatosis, 235200 for gene: HFE
Severe Paediatric Disorders v0.9 HFE2 Louise Daugherty Added phenotypes Hemochromatosis, type 2A, 602390 for gene: HFE2
Severe Paediatric Disorders v0.9 HFE Louise Daugherty Added phenotypes Hemochromatosis, 235200 for gene: HFE
Severe Paediatric Disorders v0.8 HFE2 Louise Daugherty Added phenotypes Hemochromatosis, type 2A, 602390 for gene: HFE2
Severe Paediatric Disorders v0.8 HFE Louise Daugherty Added phenotypes Hemochromatosis, 235200 for gene: HFE
Severe Paediatric Disorders v0.7 HFE2 Louise Daugherty commented on gene: HFE2
Severe Paediatric Disorders v0.7 HFE2 Louise Daugherty Source Next Generation Children Project was added to HFE2.
Severe Paediatric Disorders v0.7 HFE Louise Daugherty Source Next Generation Children Project was added to HFE.
Severe Paediatric Disorders v0.6 HFE2 Louise Daugherty Tag new-gene-name tag was added to gene: HFE2.
Severe Paediatric Disorders v0.5 HFE2 Louise Daugherty Source Expert Review Green was added to HFE2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 HFE Louise Daugherty Source Expert Review Green was added to HFE.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 HFE2 Louise Daugherty gene: HFE2 was added
gene: HFE2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: HFE2 was set to
Severe Paediatric Disorders v0.4 HFE Louise Daugherty gene: HFE was added
gene: HFE was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: HFE was set to