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Fetal anomalies

Gene: NUP88

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

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
This review was provided by Alison Male from North Thames GLH: 2 families. Need 1 more case, keep amber.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fetal akinesia deformation sequence 4, OMIM:618393; Fetal akinesia deformation sequence 4, MONDO:0100104

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.36

Rhiannon Mellis (Great Ormond Street Hospital)

I don't know

This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: May be fetally relevant but currently limited evidence, support keeping as Amber gene for now.

Details of review:
The fetal case reported in this paper (PMID: 33060286) is also published in Bonnin et al (PMID: 30543681) - so still only two unrelated families with lethal FADS and different biallelic variants in the NUP88 gene . Zebrafish model recapitulated some human phenotypes such as locomotor and neuromuscular junction defects. Agree with previous review and support keeping Amber on watchlist pending more evidence.
Created: 11 Aug 2022, 12:24 p.m. | Last Modified: 11 Aug 2022, 12:24 p.m.
Panel Version: 1.900

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
fetal akinesia

Publications

Created: 11 Aug 2022, 12:24 p.m.
Last Modified: 11 Aug 2022, 12:24 p.m.
Panel version: 1.900

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Julia Baptista (Royal Devon and Exeter NHS Foundation Trust). 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. Fetally-relevant phenotype but additional cases required prior to inclusion as diagnostic-grade. Added 'watchlist' tag.
Created: 21 Jan 2021, 9:58 a.m. | Last Modified: 21 Jan 2021, 9:58 a.m.
Panel Version: 1.165
Created: 21 Jan 2021, 9:58 a.m.
Last Modified: 21 Jan 2021, 9:58 a.m.
Panel version: 1.165

Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

Red List (low evidence)

Bonnin et al reported biallelic variants in two unrelated families.
A homozygous missense variant was identified in family A and the co-segregation data was supportive (tested 4 unaffected and 2 of the 4 affected fetuses). Compound heterozygous in-frame and nonsense variants were identified in the proband in family B (co-segregation studies in 2 unaffected sibs). The clinical features included fetal akinesia and arthrogryposis multiplex congenita. Polyhydramnios, muscle atrophy and dysmorphic features were also described.
Sources: Literature
Created: 31 May 2020, 8:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
fetal akinesia

Publications

Created: 31 May 2020, 8:56 a.m.

Panel version: 1.73

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
Tags
watchlist
OMIM
602552
Clinvar variants
Variants in NUP88
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Aug 2022, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: NUP88 were set to 30543681

21 Jan 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to gene: NUP88.

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).

21 Jan 2021, Gel status: 0

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: NUP88 were set to PMID: 30543681

21 Jan 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: NUP88 were changed from fetal akinesia to Fetal akinesia deformation sequence 4, OMIM:618393; Fetal akinesia deformation sequence 4, MONDO:0100104

31 May 2020, Gel status: 0

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

Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

gene: NUP88 was added gene: NUP88 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: NUP88 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP88 were set to PMID: 30543681 Phenotypes for gene: NUP88 were set to fetal akinesia Review for gene: NUP88 was set to RED