| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hydrops fetalis v0.287 | GLDN | Zornitza Stark Marked gene: GLDN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.287 | GLDN | Zornitza Stark Gene: gldn has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.287 | GLDN | Zornitza Stark Classified gene: GLDN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.287 | GLDN | Zornitza Stark Gene: gldn has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.286 | GLDN | Zornitza Stark reviewed gene: GLDN: Rating: AMBER; Mode of pathogenicity: None; Publications: 35806855; Phenotypes: Lethal congenital contracture syndrome 11, MIM# 617194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.284 | GLDN |
Di Milnes gene: GLDN was added gene: GLDN was added to Hydrops fetalis. Sources: Literature Mode of inheritance for gene: GLDN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLDN were set to 34132406 Phenotypes for gene: GLDN were set to Lethal congenital contracture syndrome 11, MIM# 617194 Review for gene: GLDN was set to AMBER Added comment: Homozygous pathogenic variant in two of three recurrent NIHF in consanguineous couple (no DNA from the 3rd fetus available - two prior pregnancies and current pregnancy NIHF), segregated in parents NM_181789.4:c.385_392delTGCAACAG Sources: Literature |
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