| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.511 | CHSY1 | Zornitza Stark Marked gene: CHSY1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.511 | CHSY1 | Zornitza Stark Gene: chsy1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.511 | CHSY1 | Zornitza Stark Phenotypes for gene: CHSY1 were changed from TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME to Temtamy preaxial brachydactyly syndrome, MIM# 605282; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.510 | CHSY1 | Zornitza Stark Publications for gene: CHSY1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CHSY1 |
Zornitza Stark gene: CHSY1 was added gene: CHSY1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHSY1 were set to TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME |
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