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| Arthrogryposis v3.48 | NUP88 | Arina Puzriakova Phenotypes for gene: NUP88 were changed from Fetal akinesia deformation sequence 4, MIM# 618393 to Fetal akinesia deformation sequence 4, OMIM:618393; Fetal akinesia deformation sequence 4, MONDO:0100104 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.47 | NUP88 | Arina Puzriakova Classified gene: NUP88 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.47 | NUP88 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). Two unrelated families with lethal FADS and different biallelic variants in the NUP88 gene (PMID: 30543681). Zebrafish model recapitulated some human phenotypes such as locomotor and neuromuscular junction defects. NUP88 is associated with a relevant phenotype in OMIM but is not currently in Gene2Phenotype. Rating Amber awaiting additional cases prior to inclusion as diagnostic-grade. |
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| Arthrogryposis v3.47 | NUP88 | Arina Puzriakova Gene: nup88 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.11 | NUP88 |
Zornitza Stark gene: NUP88 was added gene: NUP88 was added to Arthrogryposis. Sources: Expert list 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 GREEN gene: NUP88 was marked as current diagnostic Added comment: Two unrelated families, functional data on the variants support pathogenicity as does a zebrafish model. Sources: Expert list |
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