| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Multiple pterygium syndrome_Fetal akinesia sequence v1.10 | GBE1 | Zornitza Stark Marked gene: GBE1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v1.10 | GBE1 | Zornitza Stark Gene: gbe1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v1.10 | GBE1 | Zornitza Stark Publications for gene: GBE1 were set to 8613547 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v1.9 | GBE1 | Zornitza Stark edited their review of gene: GBE1: Added comment: PMID 30303820 reports several cases presenting with fetal akinesia, the severe end of the spectrum for this gene.; Changed publications: 8613547, 30303820 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v1.9 | Zornitza Stark Copied gene GBE1 from panel Arthrogryposis | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v1.9 | GBE1 |
Zornitza Stark gene: GBE1 was added gene: GBE1 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBE1 were set to 8613547 Phenotypes for gene: GBE1 were set to Glycogen storage disease IV, MIM# 232500 |
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