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| Genetic Epilepsy v0.2241 | PAK3 | Zornitza Stark Marked gene: PAK3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2241 | PAK3 | Zornitza Stark Gene: pak3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2241 | PAK3 | Zornitza Stark Classified gene: PAK3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2241 | PAK3 | Zornitza Stark Gene: pak3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2060 | PAK3 |
Lauren Rogers gene: PAK3 was added gene: PAK3 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PAK3 were set to 17853471; 12884430; 29246092; 25666757 Phenotypes for gene: PAK3 were set to Intellectual developmental disorder, X-linked 30 (MIM#300558) Review for gene: PAK3 was set to AMBER Added comment: PMID: 17853471: Report of 1 family with intellectual disability (5 affected males and 4 carrier females), EEG was reported for 4 affected males and 1 carrier female; only one had epilepsy, another individual had one seizure but no epileptic discharges on EEG. The familial variant in affected males and carrier females was p.(W446S). PMID: 12884430: In an Australian multigenerational family with mild to borderline non-syndromic X-linked intellectual disability, 1/13 affected males had myoclonic epilepsy. The familial variant in affected males and carrier females was p.(A365E) determined via linkage analysis. PMID: 29246092: A case report of one individual with intellectual disability, severe auto-mutilation and epilepsy had a p.(Ser527Gly) variant. PMID: 25666757: In a cohort of 183 individuals with cerebral palsy, 1 male individual had hemiplegic cerebral palsy and epilepsy and showed cognitive abilities in the upper limit of the low average range. They had a PAK3 p.(R493C) variant. Sources: Literature |
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