| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v1.93 | ACTC1 | Lilian Downie reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36945405; Phenotypes: Atrial septal defect 5 MIM#612794, Cardiomyopathy, dilated, 1R MIM#613424, Cardiomyopathy, hypertrophic, 11 MIM#612098, ACTC1 related distal arthrogryposis MONDO:0019942; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4669 | ACTC1 | Alison Yeung Phenotypes for gene: ACTC1 were changed from Atrial septal defect 5 612794; Cardiomyopathy, hypertrophic, 11 612098 to Atrial septal defect 5, MIM# 612794; Cardiomyopathy, hypertrophic, 11 MIM# 612098 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1305 | ACTC1 | Zornitza Stark changed review comment from: Well established association with cardiomyopathies. Four families reported with ASD.; to: Well established association with cardiomyopathies. Four families reported with ASD. Two had the same variant, founder. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.36 | ACTC1 | Zornitza Stark changed review comment from: Well established association with cardiomyopathies. Three families reported with ASD.; to: Well established association with cardiomyopathies. Four families reported with ASD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.36 | ACTC1 | Zornitza Stark Marked gene: ACTC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.36 | ACTC1 | Zornitza Stark Gene: actc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.36 | ACTC1 | Zornitza Stark Phenotypes for gene: ACTC1 were changed from Atrial septal defect 5 612794 to Atrial septal defect 5 612794; Cardiomyopathy, hypertrophic, 11 612098 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.35 | ACTC1 | Zornitza Stark Publications for gene: ACTC1 were set to 24461919 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.34 | ACTC1 | Zornitza Stark Mode of inheritance for gene: ACTC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.33 | ACTC1 | Zornitza Stark reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31430208, 17947298; Phenotypes: Cardiomyopathy, hypertrophic, 11 612098, Atrial septal defect; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ACTC1 |
Zornitza Stark gene: ACTC1 was added gene: ACTC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACTC1 were set to 24461919 Phenotypes for gene: ACTC1 were set to Atrial septal defect 5 612794 |
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