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Severe Paediatric Disorders v0.17 HNF1B Louise Daugherty Mode of inheritance for gene HNF1B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.12 RNF135 Louise Daugherty reviewed gene: RNF135: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ZNF148 Louise Daugherty reviewed gene: ZNF148: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ZNF142 Louise Daugherty reviewed gene: ZNF142: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 SERPINF1 Louise Daugherty reviewed gene: SERPINF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 RNF170 Louise Daugherty reviewed gene: RNF170: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 RNF168 Louise Daugherty reviewed gene: RNF168: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 RNF125 Louise Daugherty reviewed gene: RNF125: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 NF1 Louise Daugherty reviewed gene: NF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HNF1B Louise Daugherty reviewed gene: HNF1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 RNF135 Louise Daugherty Publications for gene RNF135 were updated from to 30847515
Severe Paediatric Disorders v0.11 ZNF148 Louise Daugherty Publications for gene ZNF148 were updated from to 30847515
Severe Paediatric Disorders v0.11 ZNF142 Louise Daugherty Publications for gene ZNF142 were updated from to 30847515
Severe Paediatric Disorders v0.11 SERPINF1 Louise Daugherty Publications for gene SERPINF1 were updated from to 30847515
Severe Paediatric Disorders v0.11 RNF170 Louise Daugherty Publications for gene RNF170 were updated from to 30847515
Severe Paediatric Disorders v0.11 RNF168 Louise Daugherty Publications for gene RNF168 were updated from to 30847515
Severe Paediatric Disorders v0.11 RNF125 Louise Daugherty Publications for gene RNF125 were updated from to 30847515
Severe Paediatric Disorders v0.11 NF1 Louise Daugherty Publications for gene NF1 were updated from to 30847515
Severe Paediatric Disorders v0.11 HNF1B Louise Daugherty Publications for gene HNF1B were updated from to 30847515
Severe Paediatric Disorders v0.11 RNF170 Louise Daugherty Mode of inheritance for gene RNF170 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 RNF168 Louise Daugherty Mode of inheritance for gene RNF168 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RNF125 Louise Daugherty Mode of inheritance for gene RNF125 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NF1 Louise Daugherty Mode of inheritance for gene NF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.10 RNF135 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 5, 613832 for gene: RNF135
Severe Paediatric Disorders v0.10 ZNF148 Louise Daugherty Added phenotypes Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260 for gene: ZNF148
Severe Paediatric Disorders v0.10 ZNF142 Louise Daugherty Added phenotypes Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425 for gene: ZNF142
Severe Paediatric Disorders v0.10 SERPINF1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type VI, 613982 for gene: SERPINF1
Severe Paediatric Disorders v0.10 RNF170 Louise Daugherty Added phenotypes Ataxia, sensory, 1, autosomal dominant, 608984 for gene: RNF170
Severe Paediatric Disorders v0.10 RNF168 Louise Daugherty Added phenotypes RIDDLE syndrome, 611943 for gene: RNF168
Severe Paediatric Disorders v0.10 RNF125 Louise Daugherty Added phenotypes Tenorio syndrome, 616260 for gene: RNF125
Severe Paediatric Disorders v0.10 NF1 Louise Daugherty Added phenotypes Watson syndrome, 193520; Neurofibromatosis-Noonan syndrome, 601321; Neurofibromatosis, type 1, 162200; Neurofibromatosis, familial spinal, 162210; Leukemia, juvenile myelomonocytic, 607785 for gene: NF1
Severe Paediatric Disorders v0.10 HNF1B Louise Daugherty Added phenotypes Diabetes mellitus, noninsulin-dependent, 125853; Renal cysts and diabetes syndrome, 137920 for gene: HNF1B
Severe Paediatric Disorders v0.9 RNF135 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 5, 613832 for gene: RNF135
Severe Paediatric Disorders v0.9 ZNF148 Louise Daugherty Added phenotypes Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260 for gene: ZNF148
Severe Paediatric Disorders v0.9 ZNF142 Louise Daugherty Added phenotypes Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425 for gene: ZNF142
Severe Paediatric Disorders v0.9 SERPINF1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type VI, 613982 for gene: SERPINF1
Severe Paediatric Disorders v0.9 RNF170 Louise Daugherty Added phenotypes Ataxia, sensory, 1, autosomal dominant, 608984 for gene: RNF170
Severe Paediatric Disorders v0.9 RNF168 Louise Daugherty Added phenotypes RIDDLE syndrome, 611943 for gene: RNF168
Severe Paediatric Disorders v0.9 RNF125 Louise Daugherty Added phenotypes Tenorio syndrome, 616260 for gene: RNF125
Severe Paediatric Disorders v0.9 NF1 Louise Daugherty Added phenotypes Watson syndrome, 193520; Neurofibromatosis-Noonan syndrome, 601321; Neurofibromatosis, type 1, 162200; Neurofibromatosis, familial spinal, 162210; Leukemia, juvenile myelomonocytic, 607785 for gene: NF1
Severe Paediatric Disorders v0.9 HNF1B Louise Daugherty Added phenotypes Diabetes mellitus, noninsulin-dependent, 125853; Renal cysts and diabetes syndrome, 137920 for gene: HNF1B
Severe Paediatric Disorders v0.9 RNF135 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 5, 613832 for gene: RNF135
Severe Paediatric Disorders v0.9 ZNF148 Louise Daugherty Added phenotypes Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260 for gene: ZNF148
Severe Paediatric Disorders v0.9 ZNF142 Louise Daugherty Added phenotypes Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425 for gene: ZNF142
Severe Paediatric Disorders v0.9 SERPINF1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type VI, 613982 for gene: SERPINF1
Severe Paediatric Disorders v0.9 RNF170 Louise Daugherty Added phenotypes Ataxia, sensory, 1, autosomal dominant, 608984 for gene: RNF170
Severe Paediatric Disorders v0.9 RNF168 Louise Daugherty Added phenotypes RIDDLE syndrome, 611943 for gene: RNF168
Severe Paediatric Disorders v0.9 RNF125 Louise Daugherty Added phenotypes Tenorio syndrome, 616260 for gene: RNF125
Severe Paediatric Disorders v0.9 NF1 Louise Daugherty Added phenotypes Watson syndrome, 193520; Neurofibromatosis-Noonan syndrome, 601321; Neurofibromatosis, type 1, 162200; Neurofibromatosis, familial spinal, 162210; Leukemia, juvenile myelomonocytic, 607785 for gene: NF1
Severe Paediatric Disorders v0.9 HNF1B Louise Daugherty Added phenotypes Diabetes mellitus, noninsulin-dependent, 125853; Renal cysts and diabetes syndrome, 137920 for gene: HNF1B
Severe Paediatric Disorders v0.8 RNF135 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 5, 613832 for gene: RNF135
Severe Paediatric Disorders v0.8 ZNF148 Louise Daugherty Added phenotypes Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260 for gene: ZNF148
Severe Paediatric Disorders v0.8 ZNF142 Louise Daugherty Added phenotypes Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425 for gene: ZNF142
Severe Paediatric Disorders v0.8 SERPINF1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type VI, 613982 for gene: SERPINF1
Severe Paediatric Disorders v0.8 RNF170 Louise Daugherty Added phenotypes Ataxia, sensory, 1, autosomal dominant, 608984 for gene: RNF170
Severe Paediatric Disorders v0.8 RNF168 Louise Daugherty Added phenotypes RIDDLE syndrome, 611943 for gene: RNF168
Severe Paediatric Disorders v0.8 RNF125 Louise Daugherty Added phenotypes Tenorio syndrome, 616260 for gene: RNF125
Severe Paediatric Disorders v0.8 NF1 Louise Daugherty Added phenotypes Neurofibromatosis, type 1, 162200; Neurofibromatosis-Noonan syndrome, 601321; Watson syndrome, 193520; Neurofibromatosis, familial spinal, 162210; Leukemia, juvenile myelomonocytic, 607785 for gene: NF1
Severe Paediatric Disorders v0.8 HNF1B Louise Daugherty Added phenotypes Renal cysts and diabetes syndrome, 137920; Diabetes mellitus, noninsulin-dependent, 125853 for gene: HNF1B
Severe Paediatric Disorders v0.8 RNF135 Louise Daugherty Mode of inheritance for gene RNF135 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Epilepsy, progressive myoclonic 5, 613832 for gene: RNF135
Severe Paediatric Disorders v0.8 ZNF148 Louise Daugherty Mode of inheritance for gene ZNF148 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260 for gene: ZNF148
Severe Paediatric Disorders v0.8 ZNF142 Louise Daugherty Mode of inheritance for gene ZNF142 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425 for gene: ZNF142
Severe Paediatric Disorders v0.8 SERPINF1 Louise Daugherty Mode of inheritance for gene SERPINF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Osteogenesis imperfecta, type VI, 613982 for gene: SERPINF1
Severe Paediatric Disorders v0.7 RNF135 Louise Daugherty Source Next Generation Children Project was added to RNF135.
Severe Paediatric Disorders v0.7 ZNF148 Louise Daugherty Source Next Generation Children Project was added to ZNF148.
Severe Paediatric Disorders v0.7 ZNF142 Louise Daugherty Source Next Generation Children Project was added to ZNF142.
Severe Paediatric Disorders v0.7 SERPINF1 Louise Daugherty Source Next Generation Children Project was added to SERPINF1.
Severe Paediatric Disorders v0.7 RNF170 Louise Daugherty Source Next Generation Children Project was added to RNF170.
Severe Paediatric Disorders v0.7 RNF168 Louise Daugherty Source Next Generation Children Project was added to RNF168.
Severe Paediatric Disorders v0.7 RNF125 Louise Daugherty Source Next Generation Children Project was added to RNF125.
Severe Paediatric Disorders v0.7 NF1 Louise Daugherty Source Next Generation Children Project was added to NF1.
Severe Paediatric Disorders v0.7 HNF1B Louise Daugherty Source Next Generation Children Project was added to HNF1B.
Severe Paediatric Disorders v0.5 RNF135 Louise Daugherty Source Expert Review Red was added to RNF135.
Severe Paediatric Disorders v0.5 ZNF148 Louise Daugherty Source Expert Review Green was added to ZNF148.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 ZNF142 Louise Daugherty Source Expert Review Green was added to ZNF142.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 SERPINF1 Louise Daugherty Source Expert Review Green was added to SERPINF1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 RNF170 Louise Daugherty Source Expert Review Green was added to RNF170.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 RNF168 Louise Daugherty Source Expert Review Green was added to RNF168.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 RNF125 Louise Daugherty Source Expert Review Green was added to RNF125.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 NF1 Louise Daugherty Source Expert Review Green was added to NF1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 HNF1B Louise Daugherty Source Expert Review Green was added to HNF1B.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 RNF135 Louise Daugherty gene: RNF135 was added
gene: RNF135 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: RNF135 was set to
Severe Paediatric Disorders v0.4 ZNF148 Louise Daugherty gene: ZNF148 was added
gene: ZNF148 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ZNF148 was set to
Severe Paediatric Disorders v0.4 ZNF142 Louise Daugherty gene: ZNF142 was added
gene: ZNF142 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ZNF142 was set to
Severe Paediatric Disorders v0.4 SERPINF1 Louise Daugherty gene: SERPINF1 was added
gene: SERPINF1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SERPINF1 was set to
Severe Paediatric Disorders v0.4 RNF170 Louise Daugherty gene: RNF170 was added
gene: RNF170 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: RNF170 was set to
Severe Paediatric Disorders v0.4 RNF168 Louise Daugherty gene: RNF168 was added
gene: RNF168 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: RNF168 was set to
Severe Paediatric Disorders v0.4 RNF125 Louise Daugherty gene: RNF125 was added
gene: RNF125 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: RNF125 was set to
Severe Paediatric Disorders v0.4 NF1 Louise Daugherty gene: NF1 was added
gene: NF1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: NF1 was set to
Severe Paediatric Disorders v0.4 HNF1B Louise Daugherty gene: HNF1B was added
gene: HNF1B was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: HNF1B was set to