1. Genes and Genomic Entities
  2. NUP214

NUP214

nucleoporin 214
OMIM: 114350, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red NUP214 in COVID-19 research


Level 2: Viral research
Version 1.147

review Not set
Sources
  • OMIM
Phenotypes
  • {Encephalopathy, acute, infection-induced, susceptibility to, 9} 618426
Green NUP214 in Severe microcephaly


Level 2: Neurology
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426
  • encephalopathy, acute, infection-induced, susceptibility to, 9, MONDO:0032742
Amber NUP214 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.169
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426
Green NUP214 in DDG2P


Version 6.438
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Acute Febrile Encephalopathy 618426
    Green NUP214 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.159
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426
    • encephalopathy, acute, infection-induced, susceptibility to, 9, MONDO:0032742
    Green NUP214 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.330
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • developmental delay
    • intellectual disability
    • epileptic encephalopathy
    • developmental regression
    • microcephaly
    • {Encephalopathy, acute, infection-induced, susceptibility to, 9}, 618426