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| Arthrogryposis v0.61 | NUP88 | Zornitza Stark Marked gene: NUP88 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.61 | NUP88 | Zornitza Stark Gene: nup88 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.61 | NUP88 | Zornitza Stark Classified gene: NUP88 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.61 | NUP88 | Zornitza Stark Gene: nup88 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.60 | NUP88 |
Zornitza Stark changed review comment from: Two unrelated families and a zebrafish model reported. Sources: Literature; to: Two unrelated families, functional data on the variants support pathogenicity as does a zebrafish model. Sources: Literature |
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| Arthrogryposis v0.60 | NUP88 | Zornitza Stark edited their review of gene: NUP88: Changed rating: GREEN; Changed phenotypes: Fetal akinesia deformation sequence 4, MIM# 618393 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.60 | NUP88 |
Zornitza Stark gene: NUP88 was added gene: NUP88 was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: NUP88 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP88 were set to 30543681 Phenotypes for gene: NUP88 were set to Fetal akinesia deformation sequence 4, MIM# 618393 Review for gene: NUP88 was set to AMBER Added comment: Two unrelated families and a zebrafish model reported. Sources: Literature |
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