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Arthrogryposis

Gene: NUP88

Amber List (moderate evidence)
NUP88 (nucleoporin 88)
EnsemblGeneIds (GRCh38): ENSG00000108559
EnsemblGeneIds (GRCh37): ENSG00000108559
OMIM: 602552, Gene2Phenotype
NUP88 is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

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.
Created: 21 Jan 2021, 10 a.m. | Last Modified: 21 Jan 2021, 10 a.m.
Panel Version: 3.47
Created: 21 Jan 2021, 10 a.m.
Last Modified: 21 Jan 2021, 10 a.m.
Panel version: 3.47

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Two unrelated families, functional data on the variants support pathogenicity as does a zebrafish model.
Sources: Expert list
Created: 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

Created: 11 Jul 2020, 8:39 a.m.

Panel version: 3.11

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Fetal akinesia deformation sequence 4, OMIM:618393
  • Fetal akinesia deformation sequence 4, MONDO:0100104
OMIM
602552
Clinvar variants
Variants in NUP88
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Jan 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

21 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: nup88 has been classified as Amber List (Moderate Evidence).

11 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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