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Severe Paediatric Disorders v0.17 MEGF8 Louise Daugherty Mode of inheritance for gene MEGF8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IRF8 Louise Daugherty Mode of inheritance for gene IRF8 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FGF8 Louise Daugherty Mode of inheritance for gene FGF8 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 F8 Louise Daugherty Mode of inheritance for gene F8 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.12 PHF8 Louise Daugherty reviewed gene: PHF8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 NDUFAF8 Louise Daugherty reviewed gene: NDUFAF8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MEGF8 Louise Daugherty reviewed gene: MEGF8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IRF8 Louise Daugherty reviewed gene: IRF8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FGF8 Louise Daugherty reviewed gene: FGF8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 F8 Louise Daugherty reviewed gene: F8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 PHF8 Louise Daugherty Publications for gene PHF8 were updated from to 30847515
Severe Paediatric Disorders v0.11 NDUFAF8 Louise Daugherty Publications for gene NDUFAF8 were updated from to 30847515
Severe Paediatric Disorders v0.11 MEGF8 Louise Daugherty Publications for gene MEGF8 were updated from to 30847515
Severe Paediatric Disorders v0.11 IRF8 Louise Daugherty Publications for gene IRF8 were updated from to 30847515
Severe Paediatric Disorders v0.11 FGF8 Louise Daugherty Publications for gene FGF8 were updated from to 30847515
Severe Paediatric Disorders v0.11 F8 Louise Daugherty Publications for gene F8 were updated from to 30847515
Severe Paediatric Disorders v0.11 PHF8 Louise Daugherty Mode of inheritance for gene PHF8 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 NDUFAF8 Louise Daugherty Mode of inheritance for gene NDUFAF8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.10 PHF8 Louise Daugherty Added phenotypes Mental retardation syndrome, X-linked, Siderius type, 300263 for gene: PHF8
Severe Paediatric Disorders v0.10 NDUFAF8 Louise Daugherty Added phenotypes Mitochondrial for gene: NDUFAF8
Severe Paediatric Disorders v0.10 MEGF8 Louise Daugherty Added phenotypes Carpenter syndrome 2, 614976 for gene: MEGF8
Severe Paediatric Disorders v0.10 IRF8 Louise Daugherty Added phenotypes Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990; Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893 for gene: IRF8
Severe Paediatric Disorders v0.10 FGF8 Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 6 with or without anosmia, 612702 for gene: FGF8
Severe Paediatric Disorders v0.10 F8 Louise Daugherty Added phenotypes Hemophilia A, 306700 for gene: F8
Severe Paediatric Disorders v0.9 PHF8 Louise Daugherty Added phenotypes Mental retardation syndrome, X-linked, Siderius type, 300263 for gene: PHF8
Severe Paediatric Disorders v0.9 NDUFAF8 Louise Daugherty Added phenotypes Mitochondrial for gene: NDUFAF8
Severe Paediatric Disorders v0.9 MEGF8 Louise Daugherty Added phenotypes Carpenter syndrome 2, 614976 for gene: MEGF8
Severe Paediatric Disorders v0.9 IRF8 Louise Daugherty Added phenotypes Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990; Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893 for gene: IRF8
Severe Paediatric Disorders v0.9 FGF8 Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 6 with or without anosmia, 612702 for gene: FGF8
Severe Paediatric Disorders v0.9 F8 Louise Daugherty Added phenotypes Hemophilia A, 306700 for gene: F8
Severe Paediatric Disorders v0.9 PHF8 Louise Daugherty Added phenotypes Mental retardation syndrome, X-linked, Siderius type, 300263 for gene: PHF8
Severe Paediatric Disorders v0.9 NDUFAF8 Louise Daugherty Added phenotypes Mitochondrial for gene: NDUFAF8
Severe Paediatric Disorders v0.9 MEGF8 Louise Daugherty Added phenotypes Carpenter syndrome 2, 614976 for gene: MEGF8
Severe Paediatric Disorders v0.9 IRF8 Louise Daugherty Added phenotypes Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990; Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893 for gene: IRF8
Severe Paediatric Disorders v0.9 FGF8 Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 6 with or without anosmia, 612702 for gene: FGF8
Severe Paediatric Disorders v0.9 F8 Louise Daugherty Added phenotypes Hemophilia A, 306700 for gene: F8
Severe Paediatric Disorders v0.8 PHF8 Louise Daugherty Added phenotypes Mental retardation syndrome, X-linked, Siderius type, 300263 for gene: PHF8
Severe Paediatric Disorders v0.8 NDUFAF8 Louise Daugherty Added phenotypes Mitochondrial for gene: NDUFAF8
Severe Paediatric Disorders v0.8 MEGF8 Louise Daugherty Added phenotypes Carpenter syndrome 2, 614976 for gene: MEGF8
Severe Paediatric Disorders v0.8 IRF8 Louise Daugherty Added phenotypes Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893; Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990 for gene: IRF8
Severe Paediatric Disorders v0.8 FGF8 Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 6 with or without anosmia, 612702 for gene: FGF8
Severe Paediatric Disorders v0.8 F8 Louise Daugherty Added phenotypes Hemophilia A, 306700 for gene: F8
Severe Paediatric Disorders v0.7 PHF8 Louise Daugherty Source Next Generation Children Project was added to PHF8.
Severe Paediatric Disorders v0.7 NDUFAF8 Louise Daugherty Source Next Generation Children Project was added to NDUFAF8.
Severe Paediatric Disorders v0.7 MEGF8 Louise Daugherty Source Next Generation Children Project was added to MEGF8.
Severe Paediatric Disorders v0.7 IRF8 Louise Daugherty Source Next Generation Children Project was added to IRF8.
Severe Paediatric Disorders v0.7 FGF8 Louise Daugherty Source Next Generation Children Project was added to FGF8.
Severe Paediatric Disorders v0.7 F8 Louise Daugherty Source Next Generation Children Project was added to F8.
Severe Paediatric Disorders v0.5 PHF8 Louise Daugherty Source Expert Review Green was added to PHF8.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 NDUFAF8 Louise Daugherty Source Expert Review Green was added to NDUFAF8.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 MEGF8 Louise Daugherty Source Expert Review Green was added to MEGF8.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 IRF8 Louise Daugherty Source Expert Review Green was added to IRF8.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 FGF8 Louise Daugherty Source Expert Review Green was added to FGF8.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 F8 Louise Daugherty Source Expert Review Green was added to F8.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 PHF8 Louise Daugherty gene: PHF8 was added
gene: PHF8 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: PHF8 was set to
Severe Paediatric Disorders v0.4 NDUFAF8 Louise Daugherty gene: NDUFAF8 was added
gene: NDUFAF8 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: NDUFAF8 was set to
Severe Paediatric Disorders v0.4 MEGF8 Louise Daugherty gene: MEGF8 was added
gene: MEGF8 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: MEGF8 was set to
Severe Paediatric Disorders v0.4 IRF8 Louise Daugherty gene: IRF8 was added
gene: IRF8 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: IRF8 was set to
Severe Paediatric Disorders v0.4 FGF8 Louise Daugherty gene: FGF8 was added
gene: FGF8 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: FGF8 was set to
Severe Paediatric Disorders v0.4 F8 Louise Daugherty gene: F8 was added
gene: F8 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: F8 was set to