| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2303 | TRMT1 | Elena Savva Classified gene: TRMT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2303 | TRMT1 | Elena Savva Gene: trmt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2302 | TRMT1 | Elena Savva Classified gene: TRMT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2302 | TRMT1 | Elena Savva Gene: trmt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2301 | TRMT1 | Elena Savva Marked gene: TRMT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2301 | TRMT1 | Elena Savva Gene: trmt1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2301 | TRMT1 |
Elena Savva gene: TRMT1 was added gene: TRMT1 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: TRMT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRMT1 were set to PMID: 31898845; 26308914; 30289604 Phenotypes for gene: TRMT1 were set to Intellectual developmental disorder, autosomal recessive 68 MIM#618302 Review for gene: TRMT1 was set to GREEN Added comment: Rarely reported gene Seizures (in some patients) described in OMIM. PMID: 31898845 - homozygous missense in a proband with developmental delay, ID, and epilepsy. Functional studies support pathogenicity of the missense. PMID: 26308914 - family with a homozygous PTC. The patients did not manifest any other neurological problems, ie. NO seizures. PMID: 30289604 - two families (total 4 affected) with hom PTC and canonical splice. All had seizures. Sources: Literature |
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| Genetic Epilepsy v0.1975 | TRMT10A | Zornitza Stark Marked gene: TRMT10A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1975 | TRMT10A | Zornitza Stark Gene: trmt10a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1975 | TRMT10A | Zornitza Stark Phenotypes for gene: TRMT10A were changed from microcephaly; diabetes; intellectual disability; epilepsy to Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1974 | TRMT10A | Zornitza Stark Classified gene: TRMT10A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1974 | TRMT10A | Zornitza Stark Gene: trmt10a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1947 | TRMT10A |
Shekeeb Mohammad gene: TRMT10A was added gene: TRMT10A was added to Genetic Epilepsy. Sources: Literature,Expert Review,Expert list Mode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRMT10A were set to 26535115; 4995728 Phenotypes for gene: TRMT10A were set to microcephaly; diabetes; intellectual disability; epilepsy Penetrance for gene: TRMT10A were set to unknown Review for gene: TRMT10A was set to GREEN gene: TRMT10A was marked as current diagnostic Added comment: Epilepsy is reported with cortical malformations, or due to glycaemic control issues but also at varying ages without malformations or low/high blood sugar. Sources: Literature, Expert Review, Expert list |
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