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| Cerebral Palsy v1.193 | EEF1A2 | Clare van Eyk reviewed gene: EEF1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Developmental and epileptic encephalopathy MIM#616409; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.47 | EEF1A2 | Zornitza Stark Marked gene: EEF1A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.47 | EEF1A2 | Zornitza Stark Gene: eef1a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.47 | EEF1A2 | Zornitza Stark Classified gene: EEF1A2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.47 | EEF1A2 | Zornitza Stark Gene: eef1a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.36 | EEF1A2 |
Luisa Weiss 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 Added comment: 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: Literature |
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