| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Multiple pterygium syndrome_Fetal akinesia sequence v0.41 | AGRN | Zornitza Stark Marked gene: AGRN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v0.41 | AGRN | Zornitza Stark Gene: agrn has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v0.41 | AGRN | Zornitza Stark Classified gene: AGRN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v0.41 | AGRN | Zornitza Stark Gene: agrn has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v0.40 | AGRN |
Zornitza Stark gene: AGRN was added gene: AGRN was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Literature Mode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGRN were set to 31730230 Phenotypes for gene: AGRN were set to Fetal akinesia sequence Review for gene: AGRN was set to AMBER Added comment: Single report of homozygous intragenic deletion causing fetal akinesia sequence. Association with congenital myasthenia is well established. Sources: Literature |
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