Genomics England
GMS Panels
Panels
Genes and Entities

NUP214

nucleoporin 214
OMIM: 114350
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Acute Febrile Encephalopathy 618426
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426, encephalopathy, acute, infection-induced, susceptibility to, 9, MONDO:0032742
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
developmental delay, intellectual disability, epileptic encephalopathy, developmental regression, microcephaly, {Encephalopathy, acute, infection-induced, susceptibility to, 9}, 618426
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426, encephalopathy, acute, infection-induced, susceptibility to, 9, MONDO:0032742