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Intellectual disability

Gene: NXF4

Red List (low evidence)

NXF4 (nuclear RNA export factor 4 pseudogene)
EnsemblGeneIds (GRCh38): ENSG00000196970
EnsemblGeneIds (GRCh37): ENSG00000196970
OMIM: 300318, Gene2Phenotype
NXF4 is in 1 panel

4 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Candidate gene in Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.Grozeva D et al., 2015 (PMID: 26350204
Created: 31 Oct 2017, 11:34 a.m.

Phenotypes
Intellectual Disability

Publications

Ellen McDonagh (Genomics England Curator)

Added tag to explain why there is no Ensembl gene ID for this entity.
Created: 6 Jan 2017, 4:33 p.m.

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
Phenotypes
  • Intellectual Disability
Tags
locus-type-pseudogene
OMIM
300318
Clinvar variants
Variants in NXF4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene NXF4 was set to ['26350204']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NXF4 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

NXF4 was created by ellenmcdonagh