| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.4413 | SBDS | Zornitza Stark Phenotypes for gene: SBDS were changed from SHWACHMAN-DIAMOND SYNDROME to Shwachman-Diamond syndrome, MIM#260400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3977 | WAC | Zornitza Stark Marked gene: WAC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3977 | WAC | Zornitza Stark Gene: wac has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3977 | WAC | Zornitza Stark Phenotypes for gene: WAC were changed from INTELLECTUAL DISABILITY; WAC syndrome to Desanto-Shinawi syndrome, MIM# 616708 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3976 | WAC | Zornitza Stark Publications for gene: WAC were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3975 | WAC | Zornitza Stark Mode of inheritance for gene: WAC was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3974 | WAC | Zornitza Stark reviewed gene: WAC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Desanto-Shinawi syndrome, MIM# 616708; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2584 | SRP54 | Zornitza Stark Phenotypes for gene: SRP54 were changed from Syndromic neutropenia with Shwachman-Diamond-like features to Neutropenia, severe congenital, 8, autosomal dominant, MIM# 618752 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | WAC |
Zornitza Stark gene: WAC was added gene: WAC was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: WAC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: WAC were set to INTELLECTUAL DISABILITY; WAC syndrome |
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| Fetal anomalies v0.0 | SRP54 |
Zornitza Stark gene: SRP54 was added gene: SRP54 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SRP54 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SRP54 were set to Syndromic neutropenia with Shwachman-Diamond-like features |
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| Fetal anomalies v0.0 | SBDS |
Zornitza Stark gene: SBDS was added gene: SBDS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SBDS were set to SHWACHMAN-DIAMOND SYNDROME |
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