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| Mendeliome v1.1536 | PRIMA1 | Zornitza Stark Marked gene: PRIMA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1536 | PRIMA1 | Zornitza Stark Gene: prima1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1536 | PRIMA1 |
Zornitza Stark gene: PRIMA1 was added gene: PRIMA1 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: PRIMA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRIMA1 were set to 26339676 Phenotypes for gene: PRIMA1 were set to Frontal Lobe Epilepsy MONDO:0002612 Review for gene: PRIMA1 was set to RED Added comment: - 2/3 siblings from unaffected parents in PMID: 26339676 were diagnosed with nocturnal frontal lobe epilepsy, which was confirmed by EEG. The affected siblings were homozygous for the c.93+2T>C variant canonical splice site variant. This variant was demonstrated by mini-gene assay to skip exon 2 of PRIMA1. Overall 1 family, 2 individuals with epilepsy and high impact variants in PRIMA1. Sources: Expert list |
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