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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 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 |