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  3. NEXMIF
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Intellectual_disability

Gene: NEXMIF

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

1 review

Louise Daugherty (Genomics England Curator)

added new-gene-name tag. Approved HGNC gene symbol is NEXMIF
Created: 1 Jun 2017, 2:25 p.m.
Created: 1 Jun 2017, 2:25 p.m.

Panel version: 0.1137

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)
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
OMIM
300524
Clinvar variants
Variants in NEXMIF
Penetrance
Complete
Panels with this gene

History Filter Activity

5 Nov 2017, Gel status: 1

Changed Gene Name

GEL ()

KIAA2022 was changed to NEXMIF

5 Nov 2017, Gel status: 1

Removed Tag

GEL ()

new-gene-name was removed from KIAA2022. Panel: Intellectual_disability

8 Oct 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KIAA2022 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KIAA2022 was added to Intellectual_disabilitypanel. Source: Candidate gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KIAA2022 was added to Intellectual_disabilitypanel. Sources: Emory Genetics Laboratory