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Severe Paediatric Disorders v0.17 IGKC Louise Daugherty Mode of inheritance for gene IGKC was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GK Louise Daugherty Mode of inheritance for gene GK was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 DGKE Louise Daugherty Mode of inheritance for gene DGKE was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AGK Louise Daugherty Mode of inheritance for gene AGK was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 PGK1 Louise Daugherty reviewed gene: PGK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IGKC Louise Daugherty reviewed gene: IGKC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GK Louise Daugherty reviewed gene: GK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DGKE Louise Daugherty reviewed gene: DGKE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AGK Louise Daugherty reviewed gene: AGK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 PGK1 Louise Daugherty Publications for gene PGK1 were updated from to 30847515
Severe Paediatric Disorders v0.11 IGKC Louise Daugherty Publications for gene IGKC were updated from to 30847515
Severe Paediatric Disorders v0.11 GK Louise Daugherty Publications for gene GK were updated from to 30847515
Severe Paediatric Disorders v0.11 DGKE Louise Daugherty Publications for gene DGKE were updated from to 30847515
Severe Paediatric Disorders v0.11 AGK Louise Daugherty Publications for gene AGK were updated from to 30847515
Severe Paediatric Disorders v0.11 PGK1 Louise Daugherty Mode of inheritance for gene PGK1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.10 TP63 Louise Daugherty Added phenotypes Orofacial cleft 8, 618149; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292; Hay-Wells syndrome, 106260; Split-hand/foot malformation 4, 605289; ADULT syndrome, 103285; Limb-mammary syndrome, 603543; Rapp-Hodgkin syndrome, 129400 for gene: TP63
Severe Paediatric Disorders v0.10 PRF1 Louise Daugherty Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 2, 603553; Lymphoma, non-Hodgkin, 605027; Aplastic anemia, 609135 for gene: PRF1
Severe Paediatric Disorders v0.10 PGK1 Louise Daugherty Added phenotypes Phosphoglycerate kinase 1 deficiency, 300653 for gene: PGK1
Severe Paediatric Disorders v0.10 IGKC Louise Daugherty Added phenotypes Kappa light chain deficiency, 614102 for gene: IGKC
Severe Paediatric Disorders v0.10 GK Louise Daugherty Added phenotypes Glycerol kinase deficiency, 307030 for gene: GK
Severe Paediatric Disorders v0.10 DGKE Louise Daugherty Added phenotypes Nephrotic syndrome, type 7, 615008 for gene: DGKE
Severe Paediatric Disorders v0.10 AGK Louise Daugherty Added phenotypes Sengers syndrome, 212350; Cataract 38, autosomal recessive, 614691 for gene: AGK
Severe Paediatric Disorders v0.9 TP63 Louise Daugherty Added phenotypes Orofacial cleft 8, 618149; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292; Hay-Wells syndrome, 106260; Split-hand/foot malformation 4, 605289; ADULT syndrome, 103285; Limb-mammary syndrome, 603543; Rapp-Hodgkin syndrome, 129400 for gene: TP63
Severe Paediatric Disorders v0.9 PRF1 Louise Daugherty Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 2, 603553; Lymphoma, non-Hodgkin, 605027; Aplastic anemia, 609135 for gene: PRF1
Severe Paediatric Disorders v0.9 PGK1 Louise Daugherty Added phenotypes Phosphoglycerate kinase 1 deficiency, 300653 for gene: PGK1
Severe Paediatric Disorders v0.9 IGKC Louise Daugherty Added phenotypes Kappa light chain deficiency, 614102 for gene: IGKC
Severe Paediatric Disorders v0.9 GK Louise Daugherty Added phenotypes Glycerol kinase deficiency, 307030 for gene: GK
Severe Paediatric Disorders v0.9 DGKE Louise Daugherty Added phenotypes Nephrotic syndrome, type 7, 615008 for gene: DGKE
Severe Paediatric Disorders v0.9 AGK Louise Daugherty Added phenotypes Sengers syndrome, 212350; Cataract 38, autosomal recessive, 614691 for gene: AGK
Severe Paediatric Disorders v0.9 TP63 Louise Daugherty Added phenotypes Orofacial cleft 8, 618149; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292; Hay-Wells syndrome, 106260; Split-hand/foot malformation 4, 605289; ADULT syndrome, 103285; Limb-mammary syndrome, 603543; Rapp-Hodgkin syndrome, 129400 for gene: TP63
Severe Paediatric Disorders v0.9 PRF1 Louise Daugherty Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 2, 603553; Lymphoma, non-Hodgkin, 605027; Aplastic anemia, 609135 for gene: PRF1
Severe Paediatric Disorders v0.9 PGK1 Louise Daugherty Added phenotypes Phosphoglycerate kinase 1 deficiency, 300653 for gene: PGK1
Severe Paediatric Disorders v0.9 IGKC Louise Daugherty Added phenotypes Kappa light chain deficiency, 614102 for gene: IGKC
Severe Paediatric Disorders v0.9 GK Louise Daugherty Added phenotypes Glycerol kinase deficiency, 307030 for gene: GK
Severe Paediatric Disorders v0.9 DGKE Louise Daugherty Added phenotypes Nephrotic syndrome, type 7, 615008 for gene: DGKE
Severe Paediatric Disorders v0.9 AGK Louise Daugherty Added phenotypes Sengers syndrome, 212350; Cataract 38, autosomal recessive, 614691 for gene: AGK
Severe Paediatric Disorders v0.8 TP63 Louise Daugherty Added phenotypes Rapp-Hodgkin syndrome, 129400; Orofacial cleft 8, 618149; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292; Limb-mammary syndrome, 603543; Hay-Wells syndrome, 106260; ADULT syndrome, 103285; Split-hand/foot malformation 4, 605289 for gene: TP63
Severe Paediatric Disorders v0.8 PRF1 Louise Daugherty Added phenotypes Lymphoma, non-Hodgkin, 605027; Hemophagocytic lymphohistiocytosis, familial, 2, 603553; Aplastic anemia, 609135 for gene: PRF1
Severe Paediatric Disorders v0.8 PGK1 Louise Daugherty Added phenotypes Phosphoglycerate kinase 1 deficiency, 300653 for gene: PGK1
Severe Paediatric Disorders v0.8 IGKC Louise Daugherty Added phenotypes Kappa light chain deficiency, 614102 for gene: IGKC
Severe Paediatric Disorders v0.8 GK Louise Daugherty Added phenotypes Glycerol kinase deficiency, 307030 for gene: GK
Severe Paediatric Disorders v0.8 DGKE Louise Daugherty Added phenotypes Nephrotic syndrome, type 7, 615008 for gene: DGKE
Severe Paediatric Disorders v0.8 AGK Louise Daugherty Added phenotypes Cataract 38, autosomal recessive, 614691; Sengers syndrome, 212350 for gene: AGK
Severe Paediatric Disorders v0.8 TP63 Louise Daugherty Mode of inheritance for gene TP63 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Orofacial cleft 8, 618149; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292; Hay-Wells syndrome, 106260; Split-hand/foot malformation 4, 605289; ADULT syndrome, 103285; Limb-mammary syndrome, 603543; Rapp-Hodgkin syndrome, 129400 for gene: TP63
Severe Paediatric Disorders v0.7 PGK1 Louise Daugherty Source Next Generation Children Project was added to PGK1.
Severe Paediatric Disorders v0.7 IGKC Louise Daugherty Source Next Generation Children Project was added to IGKC.
Severe Paediatric Disorders v0.7 GK Louise Daugherty Source Next Generation Children Project was added to GK.
Severe Paediatric Disorders v0.7 DGKE Louise Daugherty Source Next Generation Children Project was added to DGKE.
Severe Paediatric Disorders v0.7 AGK Louise Daugherty Source Next Generation Children Project was added to AGK.
Severe Paediatric Disorders v0.5 PGK1 Louise Daugherty Source Expert Review Green was added to PGK1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 IGKC Louise Daugherty Source Expert Review Green was added to IGKC.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 GK Louise Daugherty Source Expert Review Green was added to GK.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 DGKE Louise Daugherty Source Expert Review Green was added to DGKE.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 AGK Louise Daugherty Source Expert Review Green was added to AGK.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 PGK1 Louise Daugherty gene: PGK1 was added
gene: PGK1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: PGK1 was set to
Severe Paediatric Disorders v0.4 IGKC Louise Daugherty gene: IGKC was added
gene: IGKC was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: IGKC was set to
Severe Paediatric Disorders v0.4 GK Louise Daugherty gene: GK was added
gene: GK was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: GK was set to
Severe Paediatric Disorders v0.4 DGKE Louise Daugherty gene: DGKE was added
gene: DGKE was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: DGKE was set to
Severe Paediatric Disorders v0.4 AGK Louise Daugherty gene: AGK was added
gene: AGK was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: AGK was set to