Fetal anomalies
Gene: NEXMIF

NEXMIF (neurite extension and migration factor)
EnsemblGeneIds (GRCh38): ENSG00000050030
EnsemblGeneIds (GRCh37): ENSG00000050030
OMIM: 300524, Gene2Phenotype
NEXMIF is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for KIAA2022, and Probable for Intellectual disability and epilepsy.
Created: 11 Dec 2018, 9:05 a.m.

In the original PAGE file, MOI listed as Hemizgyous for KIAA2022, and X-linked dominant for Intellectual disability and epilepsy. In the original PAGE file, MOP listed as LOF for Intellectual disability and epilepsy, and listed as Uncertain for KIAA2022.
Created: 8 Nov 2018, 4:45 p.m.

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.9

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 Amber
PAGE DD-Gene2Phenotype

Phenotypes

KIAA2022
Intellectual disability and epilepsy

OMIM

300524

Clinvar variants

Variants in NEXMIF

Penetrance

None

Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes Intellectual disability and epilepsy for gene: NEXMIF

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: NEXMIF was added gene: NEXMIF was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NEXMIF was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: NEXMIF were set to KIAA2022

Fetal anomalies Gene: NEXMIF