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Regression

Gene: NUP214

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

1 review

Sue White (Victorian Clinical Genetics Services)

Green List (high evidence)

Sources: Literature
Created: 7 Jan 2020, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
epileptic encephalopathy; developmental regression; microcephaly

Publications

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

Created: 7 Jan 2020, 10:06 a.m.

Panel version: 0.54

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Encephalopathy, acute, infection-induced, susceptibility to, 9, MIM# 618426
  • epileptic encephalopathy
  • developmental regression
  • microcephaly
OMIM
114350
Clinvar variants
Variants in NUP214
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nup214 has been classified as Green List (High Evidence).

9 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NUP214 were set to 31178128

9 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NUP214 were changed from epileptic encephalopathy; developmental regression; microcephaly to Encephalopathy, acute, infection-induced, susceptibility to, 9, MIM# 618426; epileptic encephalopathy; developmental regression; microcephaly

9 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nup214 has been classified as Green List (High Evidence).

7 Jan 2020, Gel status: 1

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

Sue White (Victorian Clinical Genetics Services)

gene: NUP214 was added gene: NUP214 was added to Regression_VCGS. Sources: Literature 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 epileptic encephalopathy; developmental regression; microcephaly Review for gene: NUP214 was set to GREEN gene: NUP214 was marked as current diagnostic