| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.2729 | GDI1 | Zornitza Stark Marked gene: GDI1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2729 | GDI1 | Zornitza Stark Gene: gdi1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2729 | GDI1 | Zornitza Stark Phenotypes for gene: GDI1 were changed from MENTAL RETARDATION X-LINKED TYPE 41; MENTAL RETARDATION X-LINKED TYPE 48 to Intellectual developmental disorder, X-linked 41 MIM#300849 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2712 | GDI1 | Ain Roesley reviewed gene: GDI1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 41 MIM#300849; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GDI1 |
Zornitza Stark gene: GDI1 was added gene: GDI1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: GDI1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GDI1 were set to MENTAL RETARDATION X-LINKED TYPE 41; MENTAL RETARDATION X-LINKED TYPE 48 |
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