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| Genetic Epilepsy v0.2029 | PRUNE1 | Zornitza Stark Marked gene: PRUNE1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2029 | PRUNE1 | Zornitza Stark Gene: prune1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2029 | PRUNE1 | Zornitza Stark Classified gene: PRUNE1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2029 | PRUNE1 | Zornitza Stark Gene: prune1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2028 | PRUNE1 |
Chris Ciotta gene: PRUNE1 was added gene: PRUNE1 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: PRUNE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRUNE1 were set to PMID: 28334956; 26539891; 30556349; 29940663; 29797509 Phenotypes for gene: PRUNE1 were set to Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MIM#617481 Review for gene: PRUNE1 was set to GREEN Added comment: PRUNE1 is associated with neurodevelopmental disorder with microcephaly, hypotonia and variable brain anomalies (MIM#617481). Seizures are a listed phenotype in OMIM in some patients. - Seizures were seen in 6/13 individuals (PMID:28334956) from Oman, Iran, India and Italy, the variants identified in individuals with seizures were absent from gnomAD besides the commonly reported Asp109Asn variant (41 hets, 0 Homs in V4) which has also been extensively reported in ClinVar (10x pathogenic reports). - Seizures were also reported in 7/9 Cree children from the Canadian province of Manitoba (PMID:30556349), they all shared a likely founder homozygous c.521-2A>G splicing variant. The normally spliced product was absent in RNA prepared from two individuals with exon 5 skipping or multiple exon skipping leading to a frameshift and premature termination observed as outcomes of this variant. - Epilepsy was reported in 11/12 unrelated individuals (paediatric patients with neurological symptoms from Munich) with bi-allelic variants in PRUNE1 (PMID:29940663). Sources: Literature |
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