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Intellectual disability

Gene: NXF5

Red List (low evidence)
NXF5 (nuclear RNA export factor 5)
EnsemblGeneIds (GRCh38): ENSG00000126952
EnsemblGeneIds (GRCh37): ENSG00000126952
OMIM: 300319, Gene2Phenotype
NXF5 is in 2 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Maintaining Red rating as evidence linking this gene to ID is not definitive since patient variants have involved multiple genes and no cases of SNVs in the NXF5 gene have been reported.
Created: 1 Mar 2024, 4:15 p.m. | Last Modified: 1 Mar 2024, 4:15 p.m.
Panel Version: 5.483
Comment on publications: PMID: 23675524 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques
Created: 1 Mar 2024, 4:12 p.m. | Last Modified: 1 Mar 2024, 4:12 p.m.
Panel Version: 5.482
- PMID: 11566096 (2001) and PMID: 12784308 (2003) - male patient with a pericentric inversion disrupting the NXF gene cluster on Xq22.1 - includes NXF5 which was shown to have reduced expression. Clinical characteristics include severe ID, short stature, pectus excavatum, muscle wasting, and facial dysmorphism

- PMID: 20096387 (2010) - female patient with severe ID, autism, micro-brachycephaly, generalised hypotonia with distal hypotrophy of lower limbs, scoliosis and facial dysmorphisms. Array-CGH analysis identified a 1.1 Mb deletion that contains part of the NXF gene cluster, harbouring the NXF5 gene. The deletion was inherited from her mother who presented with mild ID, short stature, brachycephaly, epilepsy and a Borderline Personality Disorder.

- PMID: 22030050 (2011) - female patient with a de novo duplication of Xq22.1, disrupting the NXF gene cluster which includes NXF5. Clinical features similar to other cases include ID, short stature, general muscle hypotonia, distal muscle hypotrophy of the lower extremities.

- PMID: 23675524 (2013) - mouse model evidence showing impairment in spatial learning and memory performance when the Nxf7 gene (suggested ortholog of human NXF5) is knocked out
Created: 1 Mar 2024, 4:09 p.m. | Last Modified: 1 Mar 2024, 4:09 p.m.
Panel Version: 5.480

Publications

Created: 1 Mar 2024, 4:09 p.m.
Last Modified: 1 Mar 2024, 4:09 p.m.
Panel version: 5.480

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)

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

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 . Not enough evidence for direct nvolvement of NXF5 in ID, the gene is thought to be could be involved in development, possibly through a process in mRNA metabolism in neurons (PMID: 11566096)
Created: 31 Oct 2017, 11:34 a.m.

Phenotypes
Intellectual Disability

Publications

Created: 31 Oct 2017, 11:34 a.m.

Panel version: Imported from Intellectual disability update Oct 2017 panel version 0.19

Lu Raymond (university of cambridge )

Red List (low evidence)

Created: 23 Feb 2016, 11:20 a.m.

Panel version: 0.306

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
OMIM
300319
Clinvar variants
Variants in NXF5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

1 Mar 2024, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: nxf5 has been classified as Red List (Low Evidence).

1 Mar 2024, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: NXF5 were set to 11566096; 26350204; 23675524; 22030050; 20096387

1 Mar 2024, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: NXF5 were set to 11566096; 26350204; 23675524; 22030050

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 NXF5 was set to ['11566096', '26350204', ' 23675524', '22030050']

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)

NXF5 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

NXF5 was created by ellenmcdonagh