Epileptic encephalopathy
Gene: NEXMIFEnsemblGeneIds (GRCh38): ENSG00000050030
EnsemblGeneIds (GRCh37): ENSG00000050030
OMIM: 300524, Gene2Phenotype
NEXMIF is in 4 panels
6 reviews
Amy McTague (UCL Institute of Child Health)
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)
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)
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)
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 NEXMIFCreated: 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 OMIMCreated: 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, biallelic mutations in females
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mental retardation, X-linked 98
- OMIM
- 300524
- Clinvar variants
- Variants in NEXMIF
- Penetrance
- Complete
- Publications
-
- PMID:23615299
- Panels with this gene
History Filter Activity
Changed Gene Name
GEL ()KIAA2022 was changed to NEXMIF
Removed Tag
GEL ()new-gene-name was removed from KIAA2022. Panel: Epileptic encephalopathy
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for KIAA2022 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for KIAA2022 were set to Mental retardation, X-linked 98
Set publications
Ellen McDonagh (Genomics England Curator)Publications for KIAA2022 were set to PMID:23615299
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)KIAA2022 was added to Epileptic encephalopathypanel. Source: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
Added New Source
Richard Scott (North Thames GMC/UCL)KIAA2022 was added to Epileptic encephalopathypanel. Sources: Expert Review
Created
Richard Scott (North Thames GMC/UCL)KIAA2022 was created by Reviewer_03