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| Arthrogryposis v0.395 | ACTC1 | Zornitza Stark Marked gene: ACTC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.395 | ACTC1 | Zornitza Stark Gene: actc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.395 | ACTC1 | Zornitza Stark Classified gene: ACTC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.395 | ACTC1 | Zornitza Stark Gene: actc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.394 | ACTC1 |
Lilian Downie gene: ACTC1 was added gene: ACTC1 was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTC1 were set to PMID: 36945405 Phenotypes for gene: ACTC1 were set to MONDO:0019942 ACTC1 related distal arthrogrypsis Penetrance for gene: ACTC1 were set to Incomplete Review for gene: ACTC1 was set to GREEN Added comment: 5 new families (8 individuals) with a distral arthrogryposis phenotype: multiple congenital contractures, neck pterygia, scoliosis, and congenital heart defects/cardiomyopathy, short stature All missense variants One variant p.Arg185Trp previously reported in patient with cardiac phenotype only Sources: Literature |
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