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Severe Paediatric Disorders v1.120 C19orf12 Sarah Leigh Publications for gene: C19orf12 were set to 30847515
Severe Paediatric Disorders v1.118 F12 Arina Puzriakova Phenotypes for gene: F12 were changed from Factor XII deficiency, 234000; Angioedema, hereditary, type III, 610618 to Angioedema, hereditary, 3, OMIM:610618; Factor XII deficiency, OMIM:234000
Severe Paediatric Disorders v0.17 FGF12 Louise Daugherty Mode of inheritance for gene FGF12 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 F12 Louise Daugherty Mode of inheritance for gene F12 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 C19orf12 Louise Daugherty Mode of inheritance for gene C19orf12 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 TNFSF12 Louise Daugherty reviewed gene: TNFSF12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TCF12 Louise Daugherty reviewed gene: TCF12: 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 FGF12 Louise Daugherty reviewed gene: FGF12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 F12 Louise Daugherty reviewed gene: F12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C19orf12 Louise Daugherty reviewed gene: C19orf12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 TNFSF12 Louise Daugherty Publications for gene TNFSF12 were updated from to 30847515
Severe Paediatric Disorders v0.11 TCF12 Louise Daugherty Publications for gene TCF12 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 FGF12 Louise Daugherty Publications for gene FGF12 were updated from to 30847515
Severe Paediatric Disorders v0.11 F12 Louise Daugherty Publications for gene F12 were updated from to 30847515
Severe Paediatric Disorders v0.11 C19orf12 Louise Daugherty Publications for gene C19orf12 were updated from to 30847515
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 v0.10 TNFSF12 Louise Daugherty Added phenotypes ?Immunodeficiency 16, 615593 for gene: TNFSF12
Severe Paediatric Disorders v0.10 TCF12 Louise Daugherty Added phenotypes Craniosynostosis 3, 615314 for gene: TCF12
Severe Paediatric Disorders v0.10 RNF125 Louise Daugherty Added phenotypes Tenorio syndrome, 616260 for gene: RNF125
Severe Paediatric Disorders v0.10 FGF12 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 47, 617166 for gene: FGF12
Severe Paediatric Disorders v0.10 F12 Louise Daugherty Added phenotypes Factor XII deficiency, 234000; Angioedema, hereditary, type III, 610618 for gene: F12
Severe Paediatric Disorders v0.10 C19orf12 Louise Daugherty Added phenotypes ?Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298 for gene: C19orf12
Severe Paediatric Disorders v0.9 TNFSF12 Louise Daugherty Added phenotypes ?Immunodeficiency 16, 615593 for gene: TNFSF12
Severe Paediatric Disorders v0.9 TCF12 Louise Daugherty Added phenotypes Craniosynostosis 3, 615314 for gene: TCF12
Severe Paediatric Disorders v0.9 RNF125 Louise Daugherty Added phenotypes Tenorio syndrome, 616260 for gene: RNF125
Severe Paediatric Disorders v0.9 FGF12 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 47, 617166 for gene: FGF12
Severe Paediatric Disorders v0.9 F12 Louise Daugherty Added phenotypes Factor XII deficiency, 234000; Angioedema, hereditary, type III, 610618 for gene: F12
Severe Paediatric Disorders v0.9 C19orf12 Louise Daugherty Added phenotypes ?Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298 for gene: C19orf12
Severe Paediatric Disorders v0.9 TNFSF12 Louise Daugherty Added phenotypes ?Immunodeficiency 16, 615593 for gene: TNFSF12
Severe Paediatric Disorders v0.9 TCF12 Louise Daugherty Added phenotypes Craniosynostosis 3, 615314 for gene: TCF12
Severe Paediatric Disorders v0.9 RNF125 Louise Daugherty Added phenotypes Tenorio syndrome, 616260 for gene: RNF125
Severe Paediatric Disorders v0.9 FGF12 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 47, 617166 for gene: FGF12
Severe Paediatric Disorders v0.9 F12 Louise Daugherty Added phenotypes Factor XII deficiency, 234000; Angioedema, hereditary, type III, 610618 for gene: F12
Severe Paediatric Disorders v0.9 C19orf12 Louise Daugherty Added phenotypes ?Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298 for gene: C19orf12
Severe Paediatric Disorders v0.8 TNFSF12 Louise Daugherty Added phenotypes ?Immunodeficiency 16, 615593 for gene: TNFSF12
Severe Paediatric Disorders v0.8 TCF12 Louise Daugherty Added phenotypes Craniosynostosis 3, 615314 for gene: TCF12
Severe Paediatric Disorders v0.8 RNF125 Louise Daugherty Added phenotypes Tenorio syndrome, 616260 for gene: RNF125
Severe Paediatric Disorders v0.8 FGF12 Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 47, 617166 for gene: FGF12
Severe Paediatric Disorders v0.8 F12 Louise Daugherty Added phenotypes Factor XII deficiency, 234000; Angioedema, hereditary, type III, 610618 for gene: F12
Severe Paediatric Disorders v0.8 C19orf12 Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 4, 614298; ?Spastic paraplegia 43, autosomal recessive, 615043 for gene: C19orf12
Severe Paediatric Disorders v0.8 TNFSF12 Louise Daugherty Mode of inheritance for gene TNFSF12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Immunodeficiency 16, 615593 for gene: TNFSF12
Severe Paediatric Disorders v0.8 TCF12 Louise Daugherty Mode of inheritance for gene TCF12 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Craniosynostosis 3, 615314 for gene: TCF12
Severe Paediatric Disorders v0.7 TNFSF12 Louise Daugherty Source Next Generation Children Project was added to TNFSF12.
Severe Paediatric Disorders v0.7 TCF12 Louise Daugherty Source Next Generation Children Project was added to TCF12.
Severe Paediatric Disorders v0.7 RNF125 Louise Daugherty Source Next Generation Children Project was added to RNF125.
Severe Paediatric Disorders v0.7 FGF12 Louise Daugherty Source Next Generation Children Project was added to FGF12.
Severe Paediatric Disorders v0.7 F12 Louise Daugherty Source Next Generation Children Project was added to F12.
Severe Paediatric Disorders v0.7 C19orf12 Louise Daugherty Source Next Generation Children Project was added to C19orf12.
Severe Paediatric Disorders v0.5 TNFSF12 Louise Daugherty Source Expert Review Red was added to TNFSF12.
Severe Paediatric Disorders v0.5 TCF12 Louise Daugherty Source Expert Review Green was added to TCF12.
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 FGF12 Louise Daugherty Source Expert Review Green was added to FGF12.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 F12 Louise Daugherty Source Expert Review Green was added to F12.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 C19orf12 Louise Daugherty Source Expert Review Green was added to C19orf12.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 TNFSF12 Louise Daugherty gene: TNFSF12 was added
gene: TNFSF12 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TNFSF12 was set to
Severe Paediatric Disorders v0.4 TCF12 Louise Daugherty gene: TCF12 was added
gene: TCF12 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TCF12 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 FGF12 Louise Daugherty gene: FGF12 was added
gene: FGF12 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: FGF12 was set to
Severe Paediatric Disorders v0.4 F12 Louise Daugherty gene: F12 was added
gene: F12 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: F12 was set to
Severe Paediatric Disorders v0.4 C19orf12 Louise Daugherty gene: C19orf12 was added
gene: C19orf12 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: C19orf12 was set to