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Severe Paediatric Disorders v0.12 OTC Louise Daugherty reviewed gene: OTC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 NOTCH3 Louise Daugherty reviewed gene: NOTCH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 NOTCH2 Louise Daugherty reviewed gene: NOTCH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 NOTCH1 Louise Daugherty reviewed gene: NOTCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 OTC Louise Daugherty Publications for gene OTC were updated from to 30847515
Severe Paediatric Disorders v0.11 NOTCH3 Louise Daugherty Publications for gene NOTCH3 were updated from to 30847515
Severe Paediatric Disorders v0.11 NOTCH2 Louise Daugherty Publications for gene NOTCH2 were updated from to 30847515
Severe Paediatric Disorders v0.11 NOTCH1 Louise Daugherty Publications for gene NOTCH1 were updated from to 30847515
Severe Paediatric Disorders v0.11 OTC Louise Daugherty Mode of inheritance for gene OTC was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.11 NOTCH3 Louise Daugherty Mode of inheritance for gene NOTCH3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NOTCH2 Louise Daugherty Mode of inheritance for gene NOTCH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NOTCH1 Louise Daugherty Mode of inheritance for gene NOTCH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.10 OTC Louise Daugherty Added phenotypes Ornithine transcarbamylase deficiency, 311250 for gene: OTC
Severe Paediatric Disorders v0.10 NOTCH3 Louise Daugherty Added phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310; Lateral meningocele syndrome, 130720; ?Myofibromatosis, infantile 2, 615293 for gene: NOTCH3
Severe Paediatric Disorders v0.10 NOTCH2 Louise Daugherty Added phenotypes Alagille syndrome 2, 610205; Hajdu-Cheney syndrome, 102500 for gene: NOTCH2
Severe Paediatric Disorders v0.10 NOTCH1 Louise Daugherty Added phenotypes Adams-Oliver syndrome 5, 616028; Aortic valve disease 1, 109730 for gene: NOTCH1
Severe Paediatric Disorders v0.9 OTC Louise Daugherty Added phenotypes Ornithine transcarbamylase deficiency, 311250 for gene: OTC
Severe Paediatric Disorders v0.9 NOTCH3 Louise Daugherty Added phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310; Lateral meningocele syndrome, 130720; ?Myofibromatosis, infantile 2, 615293 for gene: NOTCH3
Severe Paediatric Disorders v0.9 NOTCH2 Louise Daugherty Added phenotypes Alagille syndrome 2, 610205; Hajdu-Cheney syndrome, 102500 for gene: NOTCH2
Severe Paediatric Disorders v0.9 NOTCH1 Louise Daugherty Added phenotypes Adams-Oliver syndrome 5, 616028; Aortic valve disease 1, 109730 for gene: NOTCH1
Severe Paediatric Disorders v0.9 OTC Louise Daugherty Added phenotypes Ornithine transcarbamylase deficiency, 311250 for gene: OTC
Severe Paediatric Disorders v0.9 NOTCH3 Louise Daugherty Added phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310; Lateral meningocele syndrome, 130720; ?Myofibromatosis, infantile 2, 615293 for gene: NOTCH3
Severe Paediatric Disorders v0.9 NOTCH2 Louise Daugherty Added phenotypes Alagille syndrome 2, 610205; Hajdu-Cheney syndrome, 102500 for gene: NOTCH2
Severe Paediatric Disorders v0.9 NOTCH1 Louise Daugherty Added phenotypes Adams-Oliver syndrome 5, 616028; Aortic valve disease 1, 109730 for gene: NOTCH1
Severe Paediatric Disorders v0.8 OTC Louise Daugherty Added phenotypes Ornithine transcarbamylase deficiency, 311250 for gene: OTC
Severe Paediatric Disorders v0.8 NOTCH3 Louise Daugherty Added phenotypes ?Myofibromatosis, infantile 2, 615293; Lateral meningocele syndrome, 130720; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 for gene: NOTCH3
Severe Paediatric Disorders v0.8 NOTCH2 Louise Daugherty Added phenotypes Hajdu-Cheney syndrome, 102500; Alagille syndrome 2, 610205 for gene: NOTCH2
Severe Paediatric Disorders v0.8 NOTCH1 Louise Daugherty Added phenotypes Aortic valve disease 1, 109730; Adams-Oliver syndrome 5, 616028 for gene: NOTCH1
Severe Paediatric Disorders v0.7 OTC Louise Daugherty Source Next Generation Children Project was added to OTC.
Severe Paediatric Disorders v0.7 NOTCH3 Louise Daugherty Source Next Generation Children Project was added to NOTCH3.
Severe Paediatric Disorders v0.7 NOTCH2 Louise Daugherty Source Next Generation Children Project was added to NOTCH2.
Severe Paediatric Disorders v0.7 NOTCH1 Louise Daugherty Source Next Generation Children Project was added to NOTCH1.
Severe Paediatric Disorders v0.5 OTC Louise Daugherty Source Expert Review Green was added to OTC.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 NOTCH3 Louise Daugherty Source Expert Review Green was added to NOTCH3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 NOTCH2 Louise Daugherty Source Expert Review Green was added to NOTCH2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 NOTCH1 Louise Daugherty Source Expert Review Green was added to NOTCH1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 OTC Louise Daugherty gene: OTC was added
gene: OTC was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: OTC was set to
Severe Paediatric Disorders v0.4 NOTCH3 Louise Daugherty gene: NOTCH3 was added
gene: NOTCH3 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: NOTCH3 was set to
Severe Paediatric Disorders v0.4 NOTCH2 Louise Daugherty gene: NOTCH2 was added
gene: NOTCH2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: NOTCH2 was set to
Severe Paediatric Disorders v0.4 NOTCH1 Louise Daugherty gene: NOTCH1 was added
gene: NOTCH1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: NOTCH1 was set to