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  3. NXF4
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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

1 review

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.
Created: 6 Jan 2017, 4:33 p.m.

Panel version: 0.1133

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
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
locus-type-pseudogene
OMIM
300318
Clinvar variants
Variants in NXF4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NXF4 was added to Intellectual_disabilitypanel. Sources: Candidate gene (Grozeva et al, 2015)