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Genetic epilepsy syndromes

Gene: NEXMIF

Green List (high evidence)

NEXMIF (neurite extension and migration factor)
EnsemblGeneIds (GRCh38): ENSG00000050030
EnsemblGeneIds (GRCh37): ENSG00000050030
OMIM: 300524, Gene2Phenotype
NEXMIF is in 6 panels

8 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Previously called KIAA2022. XLD MR98 - early onset seizures often seen. Van Maldergem et al, 2013 - 9 aff males from 4 unrelated families - seizures reported as a variable feature in aff males from 3 families identify 3 mutations2 result in premature term and the third a dup involving exon 1. Carrier females were unaff. Kuroda et al, 2015 - 2 unrelated Japanese boys - neither had seizures de novo hemizygous nonsense variants. Farach and Northup, 2016 - 17 year old girl - had refractory seizures since the age of 1 - de novo het nonsense mutation - patient had random X-inactivation pattern (73:27). De Lange et al, 2016 - 14 female patients with de novo het mutations - 12/14 had intractable epilepsy with myocolinc and/or absence seizures - de novo het truncating variants all predicted to result in LOF, X inactivation in 7 patients - 6 random whereas 1 100% skewing. Clinical variability thought to be due to X-inactivation and cellular interference. Webster et al, 2017 - 5 unrelated girls early onset intractable seizures - de novo trncating mutations - functional studies and studies of patient cells not performed.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

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, 300912

Publications

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Comment on mode of inheritance: Changed MOI from XLR to XLD to match the XLD recorded for 'Mental retardation, X-linked 98' in OMIM (MIM:300912) and Gene2Phenotype, which records X-linked dominant inheritance for 'Intellectual disability and epilepsy' in addition to hemizgyous inheritance for 'KIAA2022'. An XLD inheritance is supported by PMID:27358180 which reports 14 female patients who carry a heterozygous de novo KIAA2022 variant and share a phenotype characterised by intellectual disability and epilepsy.
Created: 11 Jul 2019, 7:44 a.m. | Last Modified: 11 Jul 2019, 7:44 a.m.
Panel Version: 1.149

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Natalie Trump (NHS - Great Ormond Street Hospital)

Green List (high evidence)

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

added new-gene-name tag. Approved HGNC gene symbol is NEXMIF
Created: 1 Jun 2017, 2:24 p.m.

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: XLR (OMIM) and Hemizygous (G2P).
Created: 29 Jan 2016, 4:54 p.m.
Comment on phenotypes: Sourced from OMIM
Created: 20 Jan 2016, 1:33 p.m.
Gene added in expert review of the panel by Richard Scott (Genomics England), Manju Kurian (UCL-Institute of Child Health), Natalie Trump (NHS - Great Ormond Street Hospital), Amy McTague (UCL Institute of Child Health).
Created: 12 Nov 2015, 4:17 p.m.

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
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review
Phenotypes
  • Mental retardation, X-linked 98, 300912
OMIM
300524
Clinvar variants
Variants in NEXMIF
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to NEXMIF.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to NEXMIF.

11 Jul 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: NEXMIF were set to PMID:23615299

11 Jul 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: NEXMIF were changed from Mental retardation, X-linked 98 to Mental retardation, X-linked 98, 300912

11 Jul 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

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)

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Gene added in expert review of

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to NEXMIF. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NEXMIF was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review,Expert Review Green

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

NEXMIF was created by Sarah Leigh