Arthrogryposis
Gene: NUP88Comment 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.Created: 21 Jan 2021, 10 a.m. | Last Modified: 21 Jan 2021, 10 a.m.
Panel Version: 3.47
Two unrelated families, functional data on the variants support pathogenicity as does a zebrafish model.
Sources: Expert listCreated: 11 Jul 2020, 8:39 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fetal akinesia deformation sequence 4, MIM# 618393
Publications
Variants in this GENE are reported as part of current diagnostic practice
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
Gene: nup88 has been classified as Amber List (Moderate Evidence).
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