Cerebral Palsy
Gene: NEXMIFEnsemblGeneIds (GRCh38): ENSG00000050030
EnsemblGeneIds (GRCh37): ENSG00000050030
OMIM: 300524, Gene2Phenotype
NEXMIF is in 7 panels
1 review
Clare van Eyk (University of Adelaide)
Variants cause X-linked intellectual disability 98 (OMIM:300912). Developmental and epileptic encephalopathy with some affected individuals having movement phenotypes which could be considered CP-like, but did not find any published reports in CP cohorts to date.Created: 20 Sep 2021, 1:30 p.m. | Last Modified: 20 Sep 2021, 1:30 p.m.
Panel Version: 0.99
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
X-linked intellectual disability 98 (OMIM:300912)
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 Red
- Phenotypes
-
- X-linked Intellectual disability
- epilepsy
- autism
- OMIM
- 300524
- Clinvar variants
- Variants in NEXMIF
- Penetrance
- Incomplete
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nexmif has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nexmif has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set penetrance
Clare van Eyk (University of Adelaide)gene: NEXMIF was added gene: NEXMIF was added to Cerebral Palsy. Sources: Expert list Mode of inheritance for gene: NEXMIF was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: NEXMIF were set to X-linked Intellectual disability; epilepsy; autism Penetrance for gene: NEXMIF were set to Incomplete Review for gene: NEXMIF was set to RED