Fetal anomalies
Gene: NEXMIF

NEXMIF (neurite extension and migration factor)
EnsemblGeneIds (GRCh38): ENSG00000050030
EnsemblGeneIds (GRCh37): ENSG00000050030
OMIM: 300524, Gene2Phenotype
NEXMIF is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Females have been described as both asymptomatic carriers or affected. Given only PTCs have been reported, there is no genotype-phenotype correlation. OMIM describes that a phenotype manifests depending on X-inactivation skewing No reported pathogenic missense to date except for the one LP hemizygous in DDD that is maternally inherited (Decipher) Compared with its hemizygous male counterpart, the heterozygous female disease has less severe intellectual disability, but is more often associated with a severe and intractable myoclonic epilepsy.

Typically presents post-natally.
Created: 18 Jun 2020, 10:29 a.m. | Last Modified: 11 Feb 2022, 10:16 a.m.

Panel Version: 0.3330

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

Phenotypes
Mental retardation, X-linked 98 300912

Publications

27358180

Created: 18 Jun 2020, 10:29 a.m.
Last Modified: 11 Feb 2022, 10:16 a.m.
Panel version: 0.3330

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
Genomics England PanelApp
Genetic Health Queensland

Phenotypes

Mental retardation, X-linked 98 300912

OMIM

300524

Clinvar variants

Variants in NEXMIF

Penetrance

None

Publications

27358180

Panels with this gene