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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