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Severe Paediatric Disorders v0.17 GIF Louise Daugherty Mode of inheritance for gene GIF was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 TGIF1 Louise Daugherty reviewed gene: TGIF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GIF Louise Daugherty edited their review of gene: GIF: 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: CBLIF; Recommended initial gene rating: Green List (high evidence); Phenotypes: Intrinsic factor deficiency, 261000 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.11 TGIF1 Louise Daugherty Publications for gene TGIF1 were updated from to 30847515
Severe Paediatric Disorders v0.11 GIF Louise Daugherty Publications for gene GIF were updated from to 30847515
Severe Paediatric Disorders v0.10 TGIF1 Louise Daugherty Added phenotypes Holoprosencephaly 4, 142946 for gene: TGIF1
Severe Paediatric Disorders v0.10 GIF Louise Daugherty Added phenotypes Intrinsic factor deficiency, 261000 for gene: GIF
Severe Paediatric Disorders v0.9 TGIF1 Louise Daugherty Added phenotypes Holoprosencephaly 4, 142946 for gene: TGIF1
Severe Paediatric Disorders v0.9 GIF Louise Daugherty Added phenotypes Intrinsic factor deficiency, 261000 for gene: GIF
Severe Paediatric Disorders v0.9 TGIF1 Louise Daugherty Added phenotypes Holoprosencephaly 4, 142946 for gene: TGIF1
Severe Paediatric Disorders v0.9 GIF Louise Daugherty Added phenotypes Intrinsic factor deficiency, 261000 for gene: GIF
Severe Paediatric Disorders v0.8 TGIF1 Louise Daugherty Added phenotypes Holoprosencephaly 4, 142946 for gene: TGIF1
Severe Paediatric Disorders v0.8 GIF Louise Daugherty Added phenotypes Intrinsic factor deficiency, 261000 for gene: GIF
Severe Paediatric Disorders v0.8 TGIF1 Louise Daugherty Mode of inheritance for gene TGIF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Holoprosencephaly 4, 142946 for gene: TGIF1
Severe Paediatric Disorders v0.7 GIF Louise Daugherty commented on gene: GIF
Severe Paediatric Disorders v0.7 TGIF1 Louise Daugherty Source Next Generation Children Project was added to TGIF1.
Severe Paediatric Disorders v0.6 GIF Louise Daugherty Tag new-gene-name tag was added to gene: GIF.
Severe Paediatric Disorders v0.7 GIF Louise Daugherty Source Next Generation Children Project was added to GIF.
Severe Paediatric Disorders v0.5 TGIF1 Louise Daugherty Source Expert Review Green was added to TGIF1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 GIF Louise Daugherty Source Expert Review Green was added to GIF.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 TGIF1 Louise Daugherty gene: TGIF1 was added
gene: TGIF1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TGIF1 was set to
Severe Paediatric Disorders v0.4 GIF Louise Daugherty gene: GIF was added
gene: GIF was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: GIF was set to