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  2. Mackenzie's Mission_Reproductive Carrier Screening
  3. NEXMIF
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Mackenzie's Mission_Reproductive Carrier Screening

Gene: NEXMIF

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

1 review

Sarah Righetti (University of New South Wales)

Green List (high evidence)

Heterozygous females may be affected, although less severely than male hemizygotes.

PMID 27358180: 14 female patients who share an epilepsy and intellectual disability phenotype. (KIAA2022 is the old gene symbol for NEXMIF)
Created: 6 Nov 2020, 5:11 a.m. | Last Modified: 6 Nov 2020, 5:11 a.m.
Panel Version: 0.47

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, MIM #300912

Created: 6 Nov 2020, 5:11 a.m.
Last Modified: 6 Nov 2020, 5:11 a.m.
Panel version: 0.47

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 Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked 98, MIM #300912
OMIM
300524
Clinvar variants
Variants in NEXMIF
Penetrance
None
Panels with this gene

History Filter Activity

7 May 2021, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: nexmif has been classified as Green List (High Evidence).

7 May 2021, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: NEXMIF were changed from Mental retardation, X-linked 98, 300912 (3) to Mental retardation, X-linked 98, MIM #300912

7 May 2021, Gel status: 3

Set mode of inheritance

Seb Lunke (Victorian Clinical Genetics Services)

Mode of inheritance for gene: NEXMIF was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

19 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NEXMIF was added gene: NEXMIF was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NEXMIF was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NEXMIF were set to Mental retardation, X-linked 98, 300912 (3)