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Intellectual disability

Gene: NUP85

Amber List (moderate evidence)
NUP85 (nucleoporin 85)
EnsemblGeneIds (GRCh38): ENSG00000125450
EnsemblGeneIds (GRCh37): ENSG00000125450
OMIM: 170285, Gene2Phenotype
NUP85 is in 2 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Promoting from red to amber. 2 cases reported but degree of ID not confirmed in the second family.
Created: 3 Nov 2021, 5:14 p.m. | Last Modified: 3 Nov 2021, 5:14 p.m.
Panel Version: 3.1406
PMID: 34170319 - Ravindran et al 2021 report two pedigrees with an MCPH-SCKS phenotype spectrum without SRNS. In the first family, a 9 yo female, with consanguineous parents, is reported to have a missense variant in NUP85 (c.932G > A; p.R311Q). Intrauterine growth restriction was noticed. At birth microcephaly was observed (OFC < 3rd centile, < −3.6 SD) as well as hypotrophy [weight −2.8 SD), length 45 cm (−2.7 SD), both <3rd centile], facial dysmorphism, syndactyly, long and thin fingers, and bilateral pes adductus. She has severe developmental delay with strongly delayed motor milestones and absent speech. Drug-resistant, genetic epilepsy with focal-onset seizures started in the first year of life. She had no clinical, laboratory or radiological findings indicative of kidney dysfunction.

In the second family, compound heterozygous missense variants in NUP85 were detected
(c.1109A > G, c.1589 T > C;p.N370S, p.M530T ) in a fetus. MRI of the fetal brain at 24 + 2 GW indicated complete agenesis of the corpus callosum, abnormal sulcation in the left frontal lobe, nodularity of the frontal horn and trigone with focal puckering of the left lateral ventricle.

PMID: 30179222 - Braun et al 2018 - 2 individuals from 1 of the families reported with steroid-resistant nephrotic syndrome were also reported to have intellectual disability but showed no structural brain defects. The degree of intellectual disability is not stated. They were found to have 2 compound heterozygous alleles (c.405+1G>A and c.1741G>C, p.Ala581Pro) in NUP85.
Sources: Literature
Created: 3 Nov 2021, 5:09 p.m. | Last Modified: 3 Nov 2021, 5:13 p.m.
Panel Version: 3.1405

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders (MCPH-SCKS)

Publications

Created: 3 Nov 2021, 5:09 p.m.
Last Modified: 3 Nov 2021, 5:13 p.m.
Panel version: 3.1405

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders (MCPH-SCKS)
OMIM
170285
Clinvar variants
Variants in NUP85
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: nup85 has been classified as Amber List (Moderate Evidence).

3 Nov 2021, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: NUP85 was added gene: NUP85 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: NUP85 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP85 were set to 34170319 Phenotypes for gene: NUP85 were set to Primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders (MCPH-SCKS) Review for gene: NUP85 was set to AMBER