| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2115 | CCDC22 | Zornitza Stark Marked gene: CCDC22 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2115 | CCDC22 | Zornitza Stark Gene: ccdc22 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2115 | CCDC22 | Zornitza Stark Classified gene: CCDC22 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2115 | CCDC22 | Zornitza Stark Gene: ccdc22 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2112 | CCDC22 |
Lilian Downie gene: CCDC22 was added gene: CCDC22 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: CCDC22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: CCDC22 were set to PMID: 34020006 Phenotypes for gene: CCDC22 were set to Ritscher-Schinzel syndrome 2 MIM#300963 Review for gene: CCDC22 was set to RED Added comment: X-linked recessive syndromic form of intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities Reviewed as on a research epilepsy gene list PMID: 34020006 patient with epileptic encephalopathy but they had a missense variant VUS - segregated only in healthy mother and grandmother, no healthy males tested, maternal uncle deceased but wasn't tested. Didn't have the typical features of the condition (no posterior fossa anomalies or cardiac malformations). Sources: Expert list |
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