| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.1962 | AFDN | Zornitza Stark Phenotypes for gene: AFDN were changed from to Epilepsy, MONDO:0015653 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1961 | AFDN | Zornitza Stark Marked gene: AFDN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1961 | AFDN | Zornitza Stark Gene: afdn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1961 | AFDN | Zornitza Stark Classified gene: AFDN as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1961 | AFDN | Zornitza Stark Gene: afdn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1960 | AFDN | Zornitza Stark Tag SV/CNV tag was added to gene: AFDN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1950 | AFDN |
John Coleman gene: AFDN was added gene: AFDN was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: AFDN was set to Unknown Publications for gene: AFDN were set to (PMID: 31690835; 9679199) Review for gene: AFDN was set to RED Added comment: Limited information regarding this gene. 1 published case with epilepsy reported on clinvar however this is part of a CNV deletion involving multiple other genes at the locus. No neurological phenotype reported apart from a gene as part of larger CNV changes at the locus (terminal 6q deletions) with multiple other genes implicated. Clinical phenotype not on ClinGen, No neurological phenotype reported on OMIM. Pubmed and other literature search returns no results for "AFDN" and "seizures", "seizure" or "AFDN" and "epilepsy". Not included on other testing panels (panelapp UK). Previous cytogenetic and animal models suggested implication in T6,11 with MLL. Sources: Literature |
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