| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v1.120 | KMT2C | Zornitza Stark Phenotypes for gene: KMT2C were changed from Kleefstra syndrome 2, MIM# 617768 to Kleefstra syndrome 2, MIM# 617768; Neurodevelopmental disorder, MONDO:0700092, KMT2C-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.119 | KMT2C | Zornitza Stark edited their review of gene: KMT2C: Added comment: Features not typical of Kleefstra syndrome and suggestion to rename condition to a broader NDD.; Changed phenotypes: Kleefstra syndrome 2, MIM# 617768, Neurodevelopmental disorder, MONDO:0700092, KMT2C-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.51 | KMT2C | Zornitza Stark Marked gene: KMT2C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.51 | KMT2C | Zornitza Stark Gene: kmt2c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.51 | KMT2C | Zornitza Stark Classified gene: KMT2C as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.51 | KMT2C | Zornitza Stark Gene: kmt2c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.50 | KMT2C | Zornitza Stark Classified gene: KMT2C as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.50 | KMT2C | Zornitza Stark Gene: kmt2c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.49 | KMT2C |
Zornitza Stark gene: KMT2C was added gene: KMT2C was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: KMT2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KMT2C were set to 39013459 Phenotypes for gene: KMT2C were set to Kleefstra syndrome 2, MIM# 617768 Review for gene: KMT2C was set to GREEN Added comment: Large cohort of 98 individuals reported. Seizures are part of the phenotype. Sources: Literature |
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