DDG2P
Gene: XPO1

XPO1 (exportin 1)
EnsemblGeneIds (GRCh38): ENSG00000082898
EnsemblGeneIds (GRCh37): ENSG00000082898
OMIM: 602559, Gene2Phenotype
XPO1 is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for XPO1-related neurodevelopmental disorder with microcephaly are moderate, monoallelic_autosomal and loss of function (PMIDs: 36807877, 40819229). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03912.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
XPO1-related neurodevelopmental disorder with microcephaly

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

XPO1-related neurodevelopmental disorder with microcephaly

OMIM

602559

Clinvar variants

Variants in XPO1

Penetrance

None

Publications

Panels with this gene

DDG2P

History Filter Activity

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: XPO1 was added gene: XPO1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: XPO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: XPO1 were set to 36807877; 40819229 Phenotypes for gene: XPO1 were set to XPO1-related neurodevelopmental disorder with microcephaly

DDG2P Gene: XPO1