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Severe Paediatric Disorders v0.12 UROS Louise Daugherty reviewed gene: UROS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 UROS Louise Daugherty Publications for gene UROS were updated from to 30847515
Severe Paediatric Disorders v0.10 UROS Louise Daugherty Added phenotypes Porphyria, congenital erythropoietic, 263700 for gene: UROS
Severe Paediatric Disorders v0.10 RPGRIP1 Louise Daugherty Added phenotypes Leber congenital amaurosis 6, 613826; Cone-rod dystrophy 13, 608194 for gene: RPGRIP1
Severe Paediatric Disorders v0.10 RPE65 Louise Daugherty Added phenotypes Retinitis pigmentosa 20, 613794; Leber congenital amaurosis 2, 204100 for gene: RPE65
Severe Paediatric Disorders v0.10 NMNAT1 Louise Daugherty Added phenotypes Leber congenital amaurosis 9, 608553 for gene: NMNAT1
Severe Paediatric Disorders v0.10 GDF6 Louise Daugherty Added phenotypes Leber congenital amaurosis 17, 615360; Multiple synostoses syndrome 4, 617898; Microphthalmia, isolated 4, 613094; Klippel-Feil syndrome 1, autosomal dominant, 118100; Microphthalmia with coloboma 6, digenic, 613703 for gene: GDF6
Severe Paediatric Disorders v0.10 CRX Louise Daugherty Added phenotypes Cone-rod retinal dystrophy-2, 120970; Leber congenital amaurosis 7, 613829 for gene: CRX
Severe Paediatric Disorders v0.10 CRB1 Louise Daugherty Added phenotypes Leber congenital amaurosis 8, 613835; Pigmented paravenous chorioretinal atrophy, 172870; Retinitis pigmentosa-12, 600105 for gene: CRB1
Severe Paediatric Disorders v0.10 CEP290 Louise Daugherty Added phenotypes Leber congenital amaurosis 10, 611755; Senior-Loken syndrome 6, 610189; ?Bardet-Biedl syndrome 14, 615991; Joubert syndrome 5, 610188; Meckel syndrome 4, 611134 for gene: CEP290
Severe Paediatric Disorders v0.10 AIPL1 Louise Daugherty Added phenotypes Cone-rod dystrophy, 604393; Leber congenital amaurosis 4, 604393; Retinitis pigmentosa, juvenile, 604393 for gene: AIPL1
Severe Paediatric Disorders v0.9 UROS Louise Daugherty Added phenotypes Porphyria, congenital erythropoietic, 263700 for gene: UROS
Severe Paediatric Disorders v0.9 RPGRIP1 Louise Daugherty Added phenotypes Leber congenital amaurosis 6, 613826; Cone-rod dystrophy 13, 608194 for gene: RPGRIP1
Severe Paediatric Disorders v0.9 RPE65 Louise Daugherty Added phenotypes Retinitis pigmentosa 20, 613794; Leber congenital amaurosis 2, 204100 for gene: RPE65
Severe Paediatric Disorders v0.9 NMNAT1 Louise Daugherty Added phenotypes Leber congenital amaurosis 9, 608553 for gene: NMNAT1
Severe Paediatric Disorders v0.9 GDF6 Louise Daugherty Added phenotypes Leber congenital amaurosis 17, 615360; Multiple synostoses syndrome 4, 617898; Microphthalmia, isolated 4, 613094; Klippel-Feil syndrome 1, autosomal dominant, 118100; Microphthalmia with coloboma 6, digenic, 613703 for gene: GDF6
Severe Paediatric Disorders v0.9 CRX Louise Daugherty Added phenotypes Cone-rod retinal dystrophy-2, 120970; Leber congenital amaurosis 7, 613829 for gene: CRX
Severe Paediatric Disorders v0.9 CRB1 Louise Daugherty Added phenotypes Leber congenital amaurosis 8, 613835; Pigmented paravenous chorioretinal atrophy, 172870; Retinitis pigmentosa-12, 600105 for gene: CRB1
Severe Paediatric Disorders v0.9 CEP290 Louise Daugherty Added phenotypes Leber congenital amaurosis 10, 611755; Senior-Loken syndrome 6, 610189; ?Bardet-Biedl syndrome 14, 615991; Joubert syndrome 5, 610188; Meckel syndrome 4, 611134 for gene: CEP290
Severe Paediatric Disorders v0.9 AIPL1 Louise Daugherty Added phenotypes Cone-rod dystrophy, 604393; Leber congenital amaurosis 4, 604393; Retinitis pigmentosa, juvenile, 604393 for gene: AIPL1
Severe Paediatric Disorders v0.9 UROS Louise Daugherty Added phenotypes Porphyria, congenital erythropoietic, 263700 for gene: UROS
Severe Paediatric Disorders v0.9 RPGRIP1 Louise Daugherty Added phenotypes Leber congenital amaurosis 6, 613826; Cone-rod dystrophy 13, 608194 for gene: RPGRIP1
Severe Paediatric Disorders v0.9 RPE65 Louise Daugherty Added phenotypes Retinitis pigmentosa 20, 613794; Leber congenital amaurosis 2, 204100 for gene: RPE65
Severe Paediatric Disorders v0.9 NMNAT1 Louise Daugherty Added phenotypes Leber congenital amaurosis 9, 608553 for gene: NMNAT1
Severe Paediatric Disorders v0.9 GDF6 Louise Daugherty Added phenotypes Leber congenital amaurosis 17, 615360; Multiple synostoses syndrome 4, 617898; Microphthalmia, isolated 4, 613094; Klippel-Feil syndrome 1, autosomal dominant, 118100; Microphthalmia with coloboma 6, digenic, 613703 for gene: GDF6
Severe Paediatric Disorders v0.9 CRX Louise Daugherty Added phenotypes Cone-rod retinal dystrophy-2, 120970; Leber congenital amaurosis 7, 613829 for gene: CRX
Severe Paediatric Disorders v0.9 CRB1 Louise Daugherty Added phenotypes Leber congenital amaurosis 8, 613835; Pigmented paravenous chorioretinal atrophy, 172870; Retinitis pigmentosa-12, 600105 for gene: CRB1
Severe Paediatric Disorders v0.9 CEP290 Louise Daugherty Added phenotypes Leber congenital amaurosis 10, 611755; Senior-Loken syndrome 6, 610189; ?Bardet-Biedl syndrome 14, 615991; Joubert syndrome 5, 610188; Meckel syndrome 4, 611134 for gene: CEP290
Severe Paediatric Disorders v0.9 AIPL1 Louise Daugherty Added phenotypes Cone-rod dystrophy, 604393; Leber congenital amaurosis 4, 604393; Retinitis pigmentosa, juvenile, 604393 for gene: AIPL1
Severe Paediatric Disorders v0.8 UROS Louise Daugherty Added phenotypes Porphyria, congenital erythropoietic, 263700 for gene: UROS
Severe Paediatric Disorders v0.8 RPGRIP1 Louise Daugherty Added phenotypes Leber congenital amaurosis 6, 613826; Cone-rod dystrophy 13, 608194 for gene: RPGRIP1
Severe Paediatric Disorders v0.8 RPE65 Louise Daugherty Added phenotypes Retinitis pigmentosa 20, 613794; Leber congenital amaurosis 2, 204100 for gene: RPE65
Severe Paediatric Disorders v0.8 NMNAT1 Louise Daugherty Added phenotypes Leber congenital amaurosis 9, 608553 for gene: NMNAT1
Severe Paediatric Disorders v0.8 GDF6 Louise Daugherty Added phenotypes Leber congenital amaurosis 17, 615360; Multiple synostoses syndrome 4, 617898; Microphthalmia with coloboma 6, digenic, 613703; Microphthalmia, isolated 4, 613094; Klippel-Feil syndrome 1, autosomal dominant, 118100 for gene: GDF6
Severe Paediatric Disorders v0.8 CRX Louise Daugherty Added phenotypes Cone-rod retinal dystrophy-2, 120970; Leber congenital amaurosis 7, 613829 for gene: CRX
Severe Paediatric Disorders v0.8 CRB1 Louise Daugherty Added phenotypes Retinitis pigmentosa-12, 600105; Leber congenital amaurosis 8, 613835; Pigmented paravenous chorioretinal atrophy, 172870 for gene: CRB1
Severe Paediatric Disorders v0.8 CEP290 Louise Daugherty Added phenotypes Meckel syndrome 4, 611134; Joubert syndrome 5, 610188; ?Bardet-Biedl syndrome 14, 615991; Leber congenital amaurosis 10, 611755; Senior-Loken syndrome 6, 610189 for gene: CEP290
Severe Paediatric Disorders v0.8 AIPL1 Louise Daugherty Added phenotypes Retinitis pigmentosa, juvenile, 604393; Leber congenital amaurosis 4, 604393; Cone-rod dystrophy, 604393 for gene: AIPL1
Severe Paediatric Disorders v0.8 UROS Louise Daugherty Mode of inheritance for gene UROS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Porphyria, congenital erythropoietic, 263700 for gene: UROS
Severe Paediatric Disorders v0.7 UROS Louise Daugherty Source Next Generation Children Project was added to UROS.
Severe Paediatric Disorders v0.5 UROS Louise Daugherty Source Expert Review Green was added to UROS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 UROS Louise Daugherty gene: UROS was added
gene: UROS was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: UROS was set to