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| Brain Calcification v1.25 | ACVR1 | Zornitza Stark Marked gene: ACVR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.25 | ACVR1 | Zornitza Stark Gene: acvr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.25 | ACVR1 | Zornitza Stark Phenotypes for gene: ACVR1 were changed from Fibrodysplasia ossificans progressiva; FOP to Fibrodysplasia ossificans progressiva, MIM# 135100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.24 | ACVR1 | Zornitza Stark Classified gene: ACVR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.24 | ACVR1 | Zornitza Stark Gene: acvr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.23 | ACVR1 | Zornitza Stark reviewed gene: ACVR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fibrodysplasia ossificans progressiva, MIM# 135100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.22 | ACVR1 |
Yetong Chen gene: ACVR1 was added gene: ACVR1 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACVR1 were set to 27565519 Phenotypes for gene: ACVR1 were set to Fibrodysplasia ossificans progressiva; FOP Review for gene: ACVR1 was set to GREEN Added comment: PMID 27565519 reports that 4 individuals with an ACVR1 variant developed T2-hyperintensity with calcifications, while 2 individuals developed isolated calcification in the dentate nuclei. In addition, 7 individuals with an ACVR1 variant developed striatal calcifications in the basal ganglia. (However, the relationship between the reported individuals and their clinical presentations is not clear, and the online supplementary Table S3, which contains the clinico-genetic characteristics of patients, cannot be found.) Sources: Expert list |
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