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Intellectual disability

Gene: NUP214

Amber List (moderate evidence)

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

2 reviews

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Promoting this gene from Grey to Amber.

Several cases reported, but developmental delay not reported in some cases until after febrile events.
Created: 8 Oct 2020, 5:59 p.m. | Last Modified: 8 Oct 2020, 5:59 p.m.
Panel Version: 3.406
Associated with {Encephalopathy, acute, infection-induced, susceptibility to, 9} 618426 in OMIM and Gene2Phenotype (probable).

PMID: 31178128 - Fichtman et al 2019 - report on two families one of Palestinian decent, the other Northern European (not Finnish descent). Each had two affected siblings in which neurological decline was seen after febrile events. The older son in family A, exhibited minor developmental delay from infancy. A homozygous missense variant was identified in NUP214 (p.Arg38Cys) in family A and segregated with the disease in available family members. In family B affected sisters were compound heterozygous for a frameshift and a missense variant in NUP214 (p.Pro387Ser and p.Pro525Leufs∗6). Functional studies with fibroblasts from one patient in family A showed a decrease in NUP214 and NUP88 levels compared to controls,

PMID: 30758658 - Shamseldin et al 2019 - describe a multiplex consanguineous family in which four affected members presented with severe neonatal hypotonia, profound global developmental delay, progressive microcephaly and early death (<2 year old). Whole exome sequencing revealed the presence of a novel homozygous missense variant in NUP214, p.D154G.

PMID: 29483668 - Egloff et al 2018 - report a 4-year-old girl presenting with developmental delay, growth retardation and facial dysmorphism. She was found to have a 9q deletion inherited from her healthy mother and a hemizygous one-base pair deletion in the NUP214 gene inherited from her father. From patient leukocytes it was found that the expression level of the NUP214 transcript was significantly decreased and close to zero in the patient compared to the controls.
Created: 8 Oct 2020, 4:40 p.m. | Last Modified: 8 Oct 2020, 5:57 p.m.
Panel Version: 3.405

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
{Encephalopathy, acute, infection-induced, susceptibility to, 9}, 618426

Publications

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
  • Expert Review Amber
Phenotypes
  • developmental delay
  • intellectual disability
  • epileptic encephalopathy
  • developmental regression
  • microcephaly
  • {Encephalopathy, acute, infection-induced, susceptibility to, 9}, 618426
OMIM
114350
Clinvar variants
Variants in NUP214
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jan 2021, Gel status: 2

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: NUP214.

12 Oct 2020, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: NUP214.

8 Oct 2020, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: NUP214 were set to 31178128

8 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: nup214 has been classified as Amber List (Moderate Evidence).

8 Oct 2020, Gel status: 0

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: NUP214 were changed from developmental delay; intellectual disability; epileptic encephalopathy; developmental regression; microcephaly to developmental delay; intellectual disability; epileptic encephalopathy; developmental regression; microcephaly; {Encephalopathy, acute, infection-induced, susceptibility to, 9}, 618426

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