| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.38 | ACTG1 | Zornitza Stark Marked gene: ACTG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.38 | ACTG1 | Zornitza Stark Gene: actg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.38 | ACTG1 | Zornitza Stark Phenotypes for gene: ACTG1 were changed from BARAITSER-WINTER SYNDROME to Baraitser-Winter syndrome 2, MIM#614583 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.37 | ACTG1 | Zornitza Stark Mode of inheritance for gene: ACTG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.36 | ACTG1 |
Zornitza Stark changed review comment from: Microphthalmia and coloboma are part of the phenotype. Sources: Expert list; to: Syndromic disorder, associated with multiple congenital abnormalities, including microphthalmia. Sources: Expert list |
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| Fetal anomalies v0.0 | ACTG1 |
Zornitza Stark gene: ACTG1 was added gene: ACTG1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACTG1 were set to BARAITSER-WINTER SYNDROME |
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