Cerebral Palsy
Gene: EEF1A2EnsemblGeneIds (GRCh38): ENSG00000101210
EnsemblGeneIds (GRCh37): ENSG00000101210
OMIM: 602959, Gene2Phenotype
EEF1A2 is in 6 panels
2 reviews
Clare van Eyk (University of Adelaide)
2 additional individuals reported with mono-allelic LP missense variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.Created: 27 May 2024, 5:27 a.m. | Last Modified: 27 May 2024, 5:27 a.m.
Panel Version: 1.193
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Developmental and epileptic encephalopathy MIM#616409
Publications
- PMID: 38693247
Luisa Weiss (University of Adelaide)
One patient in a large CP cohort with heterozygous EEF1A2 mutation. In another publication there is one patient from a cohort of patients with EIEE and EEF1A2 mutations that was also reported to have CP.
One other paper (PMID:32196822) presents a cohort of patients with epileptic-dyskinetic encephalopathy due to heterozygous de novo EEIF1A2 mutations of which 4 had a non-progressive movement disorder without the clinical diagnosis of CP.
Sources: LiteratureCreated: 29 May 2023, 4:21 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Developmental and epileptic encephalopathy MIM#616409
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Developmental and epileptic encephalopathy MIM#616409
- OMIM
- 602959
- Clinvar variants
- Variants in EEF1A2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: eef1a2 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: eef1a2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: EEF1A2 was added gene: EEF1A2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: EEF1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EEF1A2 were set to 33528536; 30109124; 32196822 Phenotypes for gene: EEF1A2 were set to Developmental and epileptic encephalopathy MIM#616409 Review for gene: EEF1A2 was set to AMBER