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Cerebral Palsy v1.211 | UBE3A | Zornitza Stark Publications for gene: UBE3A were set to PMID: 33528536 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.194 | UBE3A | Clare van Eyk reviewed gene: UBE3A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Angelman syndrome, MIM #105830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.12 | UBE3A | Zornitza Stark Marked gene: UBE3A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.12 | UBE3A | Zornitza Stark Gene: ube3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.8 | UBE3A | Chirag Patel Classified gene: UBE3A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.8 | UBE3A | Chirag Patel Gene: ube3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.7 | UBE3A |
Chirag Patel gene: UBE3A was added gene: UBE3A was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: UBE3A was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: UBE3A were set to PMID: 33528536 Phenotypes for gene: UBE3A were set to Angelman syndrome , OMIM #105830 Review for gene: UBE3A was set to GREEN Added comment: Neurodevelopmental disorder with DD, ID, epilepsy, and ataxia. Moreno-De-Luca et al. (2021) reported 3 patients with CP with P/LP variants. Sources: Literature |