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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |