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Autosomal recessive primary hypertrophic osteoarthropathy v1.9 ACVR1 Eleanor Williams Phenotypes for gene: ACVR1 were changed from Fibrodysplasia ossificans progressiva, 135100 to Fibrodysplasia ossificans progressiva OMIM:135100
Autosomal recessive primary hypertrophic osteoarthropathy v1.8 SLCO2A1 Eleanor Williams Phenotypes for gene: SLCO2A1 were changed from Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 to Hypertrophic osteoarthropathy, primary, autosomal recessive 2 OMIM:614441
Autosomal recessive primary hypertrophic osteoarthropathy v1.7 HPGD Eleanor Williams Phenotypes for gene: HPGD were changed from Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100 to Hypertrophic osteoarthropathy, primary, autosomal recessive 1 OMIM:259100
Autosomal recessive primary hypertrophic osteoarthropathy v1.6 Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Panel version has been signed off
Autosomal recessive primary hypertrophic osteoarthropathy v1.5 Catherine Snow Panel types changed to GMS Rare Disease; GMS signed-off
Panel version has been signed off
Autosomal recessive primary hypertrophic osteoarthropathy v1.4 Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Panel version has been signed off
Autosomal recessive primary hypertrophic osteoarthropathy v1.3 Sarah Leigh Panel version has been signed off
Autosomal recessive primary hypertrophic osteoarthropathy v1.1 Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Autosomal recessive primary hypertrophic osteoarthropathy v1.0 Ivone Leong promoted panel to version 1.0
Autosomal recessive primary hypertrophic osteoarthropathy v0.12 Ivone Leong List of related panels changed from to R167
Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off
Autosomal recessive primary hypertrophic osteoarthropathy v0.9 ACVR1 Rebecca Foulger Classified gene: ACVR1 as Amber List (moderate evidence)
Autosomal recessive primary hypertrophic osteoarthropathy v0.9 ACVR1 Rebecca Foulger Gene: acvr1 has been classified as Amber List (Moderate Evidence).
Autosomal recessive primary hypertrophic osteoarthropathy v0.8 ACVR1 Rebecca Foulger gene: ACVR1 was added
gene: ACVR1 was added to Autosomal recessive primary hypertrophic osteoarthropathy. Sources: Other
Mode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACVR1 were set to Fibrodysplasia ossificans progressiva, 135100
Added comment: Added ACVR1 as an Amber gene to the 'Autosomal recessive primary hypertrophic osteoarthropathy' panel as suggested by Ellen Thomas and Anna de Burca. Although the MOI is monoallelic for FOP (MIM:135100), the Testing Criteria for Clinical Indication R167 includes individuals with unexplained digital clubbing, AND either periostosis OR pachydermia.
Sources: Other
Autosomal recessive primary hypertrophic osteoarthropathy v0.7 SLCO2A1 Rebecca Foulger Source London North GLH was added to SLCO2A1.
Autosomal recessive primary hypertrophic osteoarthropathy v0.7 HPGD Rebecca Foulger Source London North GLH was added to HPGD.
Autosomal recessive primary hypertrophic osteoarthropathy v0.6 SLCO2A1 Rebecca Foulger Phenotypes for gene: SLCO2A1 were changed from Hypertrophic osteoarthropathy, primary, autosomal recessive 2; 614441 to Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441
Autosomal recessive primary hypertrophic osteoarthropathy v0.5 HPGD Rebecca Foulger Phenotypes for gene: HPGD were changed from 259100; Hypertrophic osteoarthropathy, primary, autosomal recessive 1 to Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100
Autosomal recessive primary hypertrophic osteoarthropathy v0.4 HPGD Rebecca Foulger reviewed gene: HPGD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autosomal recessive primary hypertrophic osteoarthropathy v0.4 SLCO2A1 Rebecca Foulger reviewed gene: SLCO2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autosomal recessive primary hypertrophic osteoarthropathy v0.3 HPGD Rebecca Foulger gene: HPGD was added
gene: HPGD was added to Autosomal recessive primary hypertrophic osteoarthropathy. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HPGD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPGD were set to 259100; Hypertrophic osteoarthropathy, primary, autosomal recessive 1
Autosomal recessive primary hypertrophic osteoarthropathy v0.3 SLCO2A1 Rebecca Foulger gene: SLCO2A1 was added
gene: SLCO2A1 was added to Autosomal recessive primary hypertrophic osteoarthropathy. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLCO2A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLCO2A1 were set to Hypertrophic osteoarthropathy, primary, autosomal recessive 2; 614441
Autosomal recessive primary hypertrophic osteoarthropathy v0.2 Ellen McDonagh Panel types changed to GMS Rare Disease; Component Of Super Panel
Autosomal recessive primary hypertrophic osteoarthropathy v0.0 Ellen McDonagh Added Panel Autosomal recessive primary hypertrophic osteoarthropathy
Set panel types to: GMS Rare Disease