Epileptic encephalopathy
Gene: NEXMIF
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
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
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
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
added new-gene-name tag. Approved HGNC gene symbol is NEXMIFCreated: 1 Jun 2017, 2:24 p.m.
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.
KIAA2022 was changed to NEXMIF
new-gene-name was removed from KIAA2022. Panel: Epileptic encephalopathy
This gene has been classified as Green List (High Evidence).
Mode of inheritance for KIAA2022 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for KIAA2022 were set to Mental retardation, X-linked 98
Publications for KIAA2022 were set to PMID:23615299
The Gel status was updated for this whole panel
KIAA2022 was added to Epileptic encephalopathypanel. Source: Expert Review Green
The Gel status was updated for this whole panel
This proposed gene was validated and added to this panel
KIAA2022 was added to Epileptic encephalopathypanel. Sources: Expert Review
KIAA2022 was created by Reviewer_03