| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2247 | POGZ | Zornitza Stark Marked gene: POGZ as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2247 | POGZ | Zornitza Stark Gene: pogz has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2247 | POGZ | Zornitza Stark Classified gene: POGZ as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2247 | POGZ | Zornitza Stark Gene: pogz has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2149 | POGZ |
Chris Ciotta gene: POGZ was added gene: POGZ was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: POGZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POGZ were set to PMIS: 34645992; 31136090; 28490548; 26739615; 27824329 Phenotypes for gene: POGZ were set to White-Sutton syndrome MIM#616364 Review for gene: POGZ was set to GREEN Added comment: - 2/12 Individuals in this in PMID:34645992 with POGZ PTVs were reported as having a history of at least 1 seizure. This information is mentioned in the article but seems to be left out in the clinical characteristics table on page 97 so we are unsure which individuals had a history of seizures. - PMID:31136090, a de novo POGZ truncating variant (c.2711T>G; p.Leu904*) in an individual with dysmorphic features and poor tolerance to oral feeding. No family history of seizures or ID. First epileptic seizure occurred at age 2 and persisted despite clobazam. MRI at age 3 showed cortical and sub cortical atrophy and individual presented with dev delay and epileptic encephalopathy. - PMID: 28480548, 15 year old female with healthy parents, MRI revealed global cerebellar atrophy, individual presented with dev delay and no verbal capacity, was being treated for epilepsy with medication. p.Asn941fs*3 variant was identified in this individual. - PMID:26739615, 5 individuals with POGZ p.Ser278* variant, only 1/5 with complex, partial seizures. - PMID:27824329, One chinese individual with autism, POGZ variant p.Gln127* who presented with seizures. All the above variants are high impact and absent from gnomAD V4. 6 unique cases of individuals with high impact POGZ variants presenting with seizures/epilepsy. Sources: Literature |
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