| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2038 | ALG12 | Zornitza Stark Marked gene: ALG12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2038 | ALG12 | Zornitza Stark Gene: alg12 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2038 | ALG12 | Zornitza Stark Classified gene: ALG12 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2038 | ALG12 | Zornitza Stark Gene: alg12 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2028 | ALG12 |
John Coleman gene: ALG12 was added gene: ALG12 was added to Genetic Epilepsy. Sources: NHS GMS,Literature Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG12 were set to (PMID: 33618527) Phenotypes for gene: ALG12 were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; OMIM: 607144 Review for gene: ALG12 was set to RED Added comment: Causes AR congenital disorder of gylcosolation type Ig. Listed as red list on panel app UK for Genetic Epilepsy. Epilepsy/ seizures not reported on OMIM phenotype. Seizure listed on Gene-reviews under CDG Ig however citations for this are linked to papers about CDG overall/ biochemical evidence rather than ALG12 variants. Pubmed search for "ALG12" and "epilepsy" shows no results. Search for "ALG12" and "seizure" linked to one paper only (PMID: 33618527), again only mention of seizure in this paper is related to CDGs in general and not a specific patient with ALG12/ CDG Type Ig. No established evidence of seizures or epilepsy in ALG12/ CDG type Ig phenotype. Sources: NHS GMS, Literature |
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