PanelApp (staging)
  1. Genes and Genomic Entities
  2. NUP214

NUP214

nucleoporin 214
OMIM: 114350, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green NUP214 in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Encephalopathy, acute, infection-induced, susceptibility to, 9, MIM# 618426
  • epileptic encephalopathy
  • developmental regression
  • microcephaly

Green NUP214 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.108

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Encephalopathy, acute, infection-induced, susceptibility to, 9, MIM# 618426
    • epileptic encephalopathy
    • developmental regression
    • microcephaly

    Green NUP214 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.572

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Encephalopathy, acute, infection-induced, susceptibility to, 9, MIM# 618426
    • epileptic encephalopathy
    • developmental regression
    • microcephaly

    Green NUP214 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • {Encephalopathy, acute, infection-induced, susceptibility to, 9}, MIM# 618426
    • epileptic encephalopathy
    • developmental regression
    • microcephaly