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Intellectual disability

Gene: NUP214

No list

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

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three unrelated families reported, regression on background of pre-existing neurodisability.
Sources: Expert list
Created: 6 Mar 2020, 4:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
developmental delay; intellectual disability; epileptic encephalopathy; developmental regression; microcephaly

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • developmental delay
  • intellectual disability
  • epileptic encephalopathy
  • developmental regression
  • microcephaly
OMIM
114350
Clinvar variants
Variants in NUP214
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Mar 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: NUP214 was added gene: NUP214 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: NUP214 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP214 were set to 31178128 Phenotypes for gene: NUP214 were set to developmental delay; intellectual disability; epileptic encephalopathy; developmental regression; microcephaly Review for gene: NUP214 was set to GREEN gene: NUP214 was marked as current diagnostic