Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Fetal anomalies v0.99 | ALDOA | Zornitza Stark Marked gene: ALDOA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.99 | ALDOA | Zornitza Stark Gene: aldoa has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.99 | ALDOA | Zornitza Stark Phenotypes for gene: ALDOA were changed from GLYCOGEN STORAGE DISEASE XII to Glycogen storage disease XII, MIM#611881 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.98 | ALDOA | Zornitza Stark Classified gene: ALDOA as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.98 | ALDOA | Zornitza Stark Gene: aldoa has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.97 | ALDOA | Zornitza Stark changed review comment from: Only some patients have been reported to have developmental delay; some of these reports pre-date molecular characterisation of this disorder and therefore a firm link with ID is difficult to establish.; to: Typically presents with haemolytic anaemia post-natally. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.97 | ALDOA | Zornitza Stark edited their review of gene: ALDOA: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.0 | ALDOA |
Zornitza Stark gene: ALDOA was added gene: ALDOA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDOA were set to GLYCOGEN STORAGE DISEASE XII |