| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Multiple pterygium syndrome_Fetal akinesia sequence v0.60 | NEK9 | Zornitza Stark Tag founder tag was added to gene: NEK9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v0.60 | NEK9 | Zornitza Stark Marked gene: NEK9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v0.60 | NEK9 | Zornitza Stark Gene: nek9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v0.60 | NEK9 | Zornitza Stark Classified gene: NEK9 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v0.60 | NEK9 | Zornitza Stark Gene: nek9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v0.59 | NEK9 |
Zornitza Stark gene: NEK9 was added gene: NEK9 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Literature Mode of inheritance for gene: NEK9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEK9 were set to 26908619 Phenotypes for gene: NEK9 were set to Lethal congenital contracture syndrome 10, MIM# 617022 Review for gene: NEK9 was set to AMBER Added comment: PMID 26908619: Two Irish traveller families, 5 affected individuals, same homozygous variant identified (founder effect). Limited functional data. Another family reported with milder arthrogryposis. Sources: Literature |
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