| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hydrops fetalis v0.2 | AHCY | Zornitza Stark Classified gene: AHCY as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.2 | AHCY | Zornitza Stark Gene: ahcy has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.1 | AHCY | Zornitza Stark Classified gene: AHCY as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.1 | AHCY | Zornitza Stark Gene: ahcy has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.0 | AHCY | Zornitza Stark Marked gene: AHCY as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.0 | AHCY | Zornitza Stark Gene: ahcy has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.0 | AHCY |
George McGillivray gene: AHCY was added gene: AHCY was added to Hydrops fetalis_VCGS. Sources: Expert list Mode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AHCY were set to 30121674; 20852937 Phenotypes for gene: AHCY were set to 613752 Review for gene: AHCY was set to AMBER Added comment: PMID 30121674: A late-preterm infant with a prenatal diagnosis of non-immune hydrops was born with hypotonia, poor respiratory effort, chylothorax, encephalopathy, coagulopathy, progressive hepatic failure, and refractory pulmonary hypertension... PMID 20852937: This paper reports the clinical and metabolic findings in two sibling sisters born with fetal hydrops and eventually found to have deficient S-adenosylhomocysteine hydrolase (AHCY) activity due to compound heterozygosity for two novel mutations, c.145C>T; p.Arg49Cys and c.257A>G; p.Asp86Gly Sources: Expert list |
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