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Severe Paediatric Disorders v0.12 UNG Louise Daugherty reviewed gene: UNG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 UNG Louise Daugherty Publications for gene UNG were updated from to 30847515
Severe Paediatric Disorders v0.10 MUTYH Louise Daugherty Added phenotypes Angiofibroma, somatic; Carcinoid tumor of lung; Multiple endocrine neoplasia 1, 131100; Lipoma, somatic; Adrenal adenoma, somatic; Parathyroid adenoma, somatic for gene: MUTYH
Severe Paediatric Disorders v0.10 REEP2 Louise Daugherty Added phenotypes Small cell cancer of the lung, somatic, 182280; Osteosarcoma, somatic, 259500; Retinoblastoma, trilateral, 180200; Retinoblastoma, 180200; Bladder cancer, somatic, 109800 for gene: REEP2
Severe Paediatric Disorders v0.10 UNG Louise Daugherty Added phenotypes Immunodeficiency with hyper IgM, type 5, 608106 for gene: UNG
Severe Paediatric Disorders v0.10 RAD21 Louise Daugherty Added phenotypes ?Mungan syndrome, 611376; Cornelia de Lange syndrome 4, 614701 for gene: RAD21
Severe Paediatric Disorders v0.10 PHOX2B Louise Daugherty Added phenotypes Neuroblastoma with Hirschsprung disease, 613013; Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 for gene: PHOX2B
Severe Paediatric Disorders v0.10 NSMCE3 Louise Daugherty Added phenotypes Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241 for gene: NSMCE3
Severe Paediatric Disorders v0.10 L1CAM Louise Daugherty Added phenotypes Hydrocephalus with Hirschsprung disease, 307000; Corpus callosum, partial agenesis of, 304100; MASA syndrome, 303350; Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000; CRASH syndrome, 303350; Hydrocephalus due to aqueductal stenosis, 307000 for gene: L1CAM
Severe Paediatric Disorders v0.10 KCNJ11 Louise Daugherty Added phenotypes Diabetes mellitus, transient neonatal, 3, 610582; Maturity-onset diabetes of the young, type 13, 616329; Diabetes, permanent neonatal, with or without neurologic features, 606176; Hyperinsulinemic hypoglycemia, familial, 2, 601820 for gene: KCNJ11
Severe Paediatric Disorders v0.10 ITGA3 Louise Daugherty Added phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 for gene: ITGA3
Severe Paediatric Disorders v0.10 HNF4A Louise Daugherty Added phenotypes MODY, type I, 125850; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 for gene: HNF4A
Severe Paediatric Disorders v0.10 CSNK2A1 Louise Daugherty Added phenotypes Okur-Chung neurodevelopmental syndrome, 617062 for gene: CSNK2A1
Severe Paediatric Disorders v0.10 COPA Louise Daugherty Added phenotypes {Autoimmune interstitial lung, joint, and kidney disease}, 616414 for gene: COPA
Severe Paediatric Disorders v0.9 MUTYH Louise Daugherty Added phenotypes Angiofibroma, somatic; Carcinoid tumor of lung; Multiple endocrine neoplasia 1, 131100; Lipoma, somatic; Adrenal adenoma, somatic; Parathyroid adenoma, somatic for gene: MUTYH
Severe Paediatric Disorders v0.9 REEP2 Louise Daugherty Added phenotypes Small cell cancer of the lung, somatic, 182280; Osteosarcoma, somatic, 259500; Retinoblastoma, trilateral, 180200; Retinoblastoma, 180200; Bladder cancer, somatic, 109800 for gene: REEP2
Severe Paediatric Disorders v0.9 UNG Louise Daugherty Added phenotypes Immunodeficiency with hyper IgM, type 5, 608106 for gene: UNG
Severe Paediatric Disorders v0.9 RAD21 Louise Daugherty Added phenotypes ?Mungan syndrome, 611376; Cornelia de Lange syndrome 4, 614701 for gene: RAD21
Severe Paediatric Disorders v0.9 PHOX2B Louise Daugherty Added phenotypes Neuroblastoma with Hirschsprung disease, 613013; Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 for gene: PHOX2B
Severe Paediatric Disorders v0.9 NSMCE3 Louise Daugherty Added phenotypes Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241 for gene: NSMCE3
Severe Paediatric Disorders v0.9 L1CAM Louise Daugherty Added phenotypes Hydrocephalus with Hirschsprung disease, 307000; Corpus callosum, partial agenesis of, 304100; MASA syndrome, 303350; Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000; CRASH syndrome, 303350; Hydrocephalus due to aqueductal stenosis, 307000 for gene: L1CAM
Severe Paediatric Disorders v0.9 KCNJ11 Louise Daugherty Added phenotypes Diabetes mellitus, transient neonatal, 3, 610582; Maturity-onset diabetes of the young, type 13, 616329; Diabetes, permanent neonatal, with or without neurologic features, 606176; Hyperinsulinemic hypoglycemia, familial, 2, 601820 for gene: KCNJ11
Severe Paediatric Disorders v0.9 ITGA3 Louise Daugherty Added phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 for gene: ITGA3
Severe Paediatric Disorders v0.9 HNF4A Louise Daugherty Added phenotypes MODY, type I, 125850; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 for gene: HNF4A
Severe Paediatric Disorders v0.9 CSNK2A1 Louise Daugherty Added phenotypes Okur-Chung neurodevelopmental syndrome, 617062 for gene: CSNK2A1
Severe Paediatric Disorders v0.9 COPA Louise Daugherty Added phenotypes {Autoimmune interstitial lung, joint, and kidney disease}, 616414 for gene: COPA
Severe Paediatric Disorders v0.9 MUTYH Louise Daugherty Added phenotypes Angiofibroma, somatic; Carcinoid tumor of lung; Multiple endocrine neoplasia 1, 131100; Lipoma, somatic; Adrenal adenoma, somatic; Parathyroid adenoma, somatic for gene: MUTYH
Severe Paediatric Disorders v0.9 REEP2 Louise Daugherty Added phenotypes Small cell cancer of the lung, somatic, 182280; Osteosarcoma, somatic, 259500; Retinoblastoma, trilateral, 180200; Retinoblastoma, 180200; Bladder cancer, somatic, 109800 for gene: REEP2
Severe Paediatric Disorders v0.9 UNG Louise Daugherty Added phenotypes Immunodeficiency with hyper IgM, type 5, 608106 for gene: UNG
Severe Paediatric Disorders v0.9 RAD21 Louise Daugherty Added phenotypes ?Mungan syndrome, 611376; Cornelia de Lange syndrome 4, 614701 for gene: RAD21
Severe Paediatric Disorders v0.9 PHOX2B Louise Daugherty Added phenotypes Neuroblastoma with Hirschsprung disease, 613013; Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 for gene: PHOX2B
Severe Paediatric Disorders v0.9 NSMCE3 Louise Daugherty Added phenotypes Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241 for gene: NSMCE3
Severe Paediatric Disorders v0.9 L1CAM Louise Daugherty Added phenotypes Hydrocephalus with Hirschsprung disease, 307000; Corpus callosum, partial agenesis of, 304100; MASA syndrome, 303350; Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000; CRASH syndrome, 303350; Hydrocephalus due to aqueductal stenosis, 307000 for gene: L1CAM
Severe Paediatric Disorders v0.9 KCNJ11 Louise Daugherty Added phenotypes Diabetes mellitus, transient neonatal, 3, 610582; Maturity-onset diabetes of the young, type 13, 616329; Diabetes, permanent neonatal, with or without neurologic features, 606176; Hyperinsulinemic hypoglycemia, familial, 2, 601820 for gene: KCNJ11
Severe Paediatric Disorders v0.9 ITGA3 Louise Daugherty Added phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 for gene: ITGA3
Severe Paediatric Disorders v0.9 HNF4A Louise Daugherty Added phenotypes MODY, type I, 125850; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 for gene: HNF4A
Severe Paediatric Disorders v0.9 CSNK2A1 Louise Daugherty Added phenotypes Okur-Chung neurodevelopmental syndrome, 617062 for gene: CSNK2A1
Severe Paediatric Disorders v0.9 COPA Louise Daugherty Added phenotypes {Autoimmune interstitial lung, joint, and kidney disease}, 616414 for gene: COPA
Severe Paediatric Disorders v0.8 MUTYH Louise Daugherty Added phenotypes Lipoma, somatic; Adrenal adenoma, somatic; Multiple endocrine neoplasia 1, 131100; Parathyroid adenoma, somatic; Carcinoid tumor of lung; Angiofibroma, somatic for gene: MUTYH
Severe Paediatric Disorders v0.8 REEP2 Louise Daugherty Added phenotypes Retinoblastoma, trilateral, 180200; Bladder cancer, somatic, 109800; Osteosarcoma, somatic, 259500; Retinoblastoma, 180200; Small cell cancer of the lung, somatic, 182280 for gene: REEP2
Severe Paediatric Disorders v0.8 UNG Louise Daugherty Added phenotypes Immunodeficiency with hyper IgM, type 5, 608106 for gene: UNG
Severe Paediatric Disorders v0.8 RAD21 Louise Daugherty Added phenotypes ?Mungan syndrome, 611376; Cornelia de Lange syndrome 4, 614701 for gene: RAD21
Severe Paediatric Disorders v0.8 PHOX2B Louise Daugherty Added phenotypes Neuroblastoma with Hirschsprung disease, 613013; Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 for gene: PHOX2B
Severe Paediatric Disorders v0.8 NSMCE3 Louise Daugherty Added phenotypes Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241 for gene: NSMCE3
Severe Paediatric Disorders v0.8 L1CAM Louise Daugherty Added phenotypes Hydrocephalus with Hirschsprung disease, 307000; MASA syndrome, 303350; Hydrocephalus due to aqueductal stenosis, 307000; Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000; Corpus callosum, partial agenesis of, 304100; CRASH syndrome, 303350 for gene: L1CAM
Severe Paediatric Disorders v0.8 KCNJ11 Louise Daugherty Added phenotypes Hyperinsulinemic hypoglycemia, familial, 2, 601820; Diabetes, permanent neonatal, with or without neurologic features, 606176; Diabetes mellitus, transient neonatal, 3, 610582; Maturity-onset diabetes of the young, type 13, 616329 for gene: KCNJ11
Severe Paediatric Disorders v0.8 ITGA3 Louise Daugherty Added phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 for gene: ITGA3
Severe Paediatric Disorders v0.8 HNF4A Louise Daugherty Added phenotypes MODY, type I, 125850; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 for gene: HNF4A
Severe Paediatric Disorders v0.8 CSNK2A1 Louise Daugherty Added phenotypes Okur-Chung neurodevelopmental syndrome, 617062 for gene: CSNK2A1
Severe Paediatric Disorders v0.8 COPA Louise Daugherty Added phenotypes {Autoimmune interstitial lung, joint, and kidney disease}, 616414 for gene: COPA
Severe Paediatric Disorders v0.8 MUTYH Louise Daugherty Mode of inheritance for gene MUTYH was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Angiofibroma, somatic; Carcinoid tumor of lung; Multiple endocrine neoplasia 1, 131100; Lipoma, somatic; Adrenal adenoma, somatic; Parathyroid adenoma, somatic for gene: MUTYH
Severe Paediatric Disorders v0.8 REEP2 Louise Daugherty Mode of inheritance for gene REEP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Small cell cancer of the lung, somatic, 182280; Osteosarcoma, somatic, 259500; Retinoblastoma, trilateral, 180200; Retinoblastoma, 180200; Bladder cancer, somatic, 109800 for gene: REEP2
Severe Paediatric Disorders v0.8 UNG Louise Daugherty Mode of inheritance for gene UNG was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Immunodeficiency with hyper IgM, type 5, 608106 for gene: UNG
Severe Paediatric Disorders v0.7 UNG Louise Daugherty Source Next Generation Children Project was added to UNG.
Severe Paediatric Disorders v0.5 UNG Louise Daugherty Source Expert Review Green was added to UNG.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 UNG Louise Daugherty gene: UNG was added
gene: UNG was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: UNG was set to