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| Genetic Epilepsy v1.76 | PPP2R2B |
Bryony Thompson gene: PPP2R2B was added gene: PPP2R2B was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: PPP2R2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPP2R2B were set to 25356899; 39565297 Phenotypes for gene: PPP2R2B were set to Neurodevelopmental disorder MONDO:0700092, PPP2R2B-related Review for gene: PPP2R2B was set to AMBER Added comment: 5 cases with NDD and heterozygous missense (4/5 confirmed de novo): p.Thr246Lys (unknown inheritance), p.Asn310Lys (confirmed de novo), p.Glu37Lys (confirmed de novo, also had RNU4-2 path de novo Path variant), p.Ile427Thr (confirmed de novo, also had TAOK1 inherited Path variant), p.Arg149Pro (confirmed de novo). 5/5 with intellectual disability and developmental delay, 4/5 with seizures, 2/5 with hearing loss/auditory neuropathy. Study includes in vitro functional assays supporting a possible loss of function mechanism of disease. The 2 missense with additional diagnoses (E37K & I427T) demonstrated a partial reduction in PP2A holoenzyme assembly. Only 3 cases with a possible diagnosis that could be attributed to the PPP2R2B only, and only 2 were confirmed de novo. Sources: Literature |
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| Genetic Epilepsy v0.2229 | TAOK1 | Zornitza Stark Marked gene: TAOK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2229 | TAOK1 | Zornitza Stark Gene: taok1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2228 | TAOK1 |
Elena Savva gene: TAOK1 was added gene: TAOK1 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: TAOK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TAOK1 were set to Developmental delay with or without intellectual impairment or behavioral abnormalities MIM#619575 Review for gene: TAOK1 was set to RED Added comment: No reports found of patients with seizures/epilepsy. Gene was listed in the Oliver list Sources: Literature |
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| Genetic Epilepsy v0.2228 | TAOK1 |
Elena Savva gene: TAOK1 was added gene: TAOK1 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: TAOK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TAOK1 were set to Developmental delay with or without intellectual impairment or behavioral abnormalities MIM#619575 Review for gene: TAOK1 was set to RED Added comment: No reports found of patients with seizures/epilepsy. Gene was listed in the Oliver list Sources: Literature |
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