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COVID-19 research

Gene: NUP214

Red List (low evidence)

NUP214 (nucleoporin 214)
EnsemblGeneIds (GRCh38): ENSG00000126883
EnsemblGeneIds (GRCh37): ENSG00000126883
OMIM: 114350, Gene2Phenotype
NUP214 is in 4 panels

2 reviews

Alison Coffey (Illumina Clinical Services Laboratory, Illumina Inc.)

Red List (low evidence)

Mode of inheritance
Unknown

Publications

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

NUP214 was identified through an OMIM search for potential viral susceptibility genes. Initial triage by Illumina (Alison Coffey and team) was given a Tier 1 grouping (clear GDA/viral susceptibility). Illumina review: PMID 31178128: Fichtman et al. (2019) reported four patients from two unrelated families with fever-induced, partially reversible acute encephalopathy and regression, progressive microcephaly, and brain atrophy. Febrile episodes were associated with viral infections. Exome sequencing identified that both affected individuals from family A were homozygous for the NUP214 NM_005085.3; c.112C>T (p.Arg38Cys) missense variant. A frameshift variant, c.1574delC (p.Pro525LeufsTer6) and a missense variant c.1159C>T (p.Pro387Ser), found in a compound heterozygous state were identified in the NUP214 gene in the two affected individuals from family B. The missense variants affected highly conserved residues and were present at a low frequency in gnomAD. Functional studies on primary skin fibroblasts derived from one case (family A1) supported pathogenicity of the p.Arg38Cys variant; NUP214 and NUP88 protein levels were reduced in while the total number and density of nuclear pore complexes remained normal. Nuclear transport assays revealed defects in the classical protein import and mRNA export pathways in affected cells.
Created: 11 Jun 2020, 6:10 p.m. | Last Modified: 12 Jun 2020, 11:06 a.m.
Panel Version: 1.37
Viral involvement was found in 3/4 cases of susceptibility to acute infection-induced Encephalopathy 9 (OMIM 618426), caused by biallieic variants in NUP214 (PMID 31178128).
Created: 4 May 2020, 3:17 p.m. | Last Modified: 4 May 2020, 3:17 p.m.
Panel Version: 0.176

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
{Encephalopathy, acute, infection-induced, susceptibility to, 9} 618426

Publications

Details

Sources
  • OMIM
Phenotypes
  • {Encephalopathy, acute, infection-induced, susceptibility to, 9} 618426
OMIM
114350
Clinvar variants
Variants in NUP214
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Jun 2020, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: NUP214 were changed from to {Encephalopathy, acute, infection-induced, susceptibility to, 9} 618426

12 Jun 2020, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: NUP214 were set to

21 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Sarah Leigh (Genomics England Curator)

gene: NUP214 was added gene: NUP214 was added to Viral susceptibility. Sources: OMIM Mode of inheritance for gene: NUP214 was set to