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| Genetic Epilepsy v0.2185 | KDM5A |
Elena Savva gene: KDM5A was added gene: KDM5A was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: KDM5A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KDM5A were set to PMID: 34210021 Phenotypes for gene: KDM5A were set to Neurodevelopmental disorder MONDO:0700092, KDM5A-related Review for gene: KDM5A was set to RED Added comment: PMID: 34210021 - large multigene deletion in a family with ID, epilepsy and schizophrenia. This gene and CACNA1C were considered the best candidates. No evidence of SNVs in this gene causing epilepsy. This gene was on the Oliver list Sources: Literature |
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| Genetic Epilepsy v0.1664 | CACNA1C | Zornitza Stark Phenotypes for gene: CACNA1C were changed from Neurodevelopmental abnormalities and epilepsy, no OMIM# to Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures, MIM# 620029 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1663 | CACNA1C | Zornitza Stark edited their review of gene: CACNA1C: Changed phenotypes: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures, MIM# 620029 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1270 | CACNA1C | Zornitza Stark Marked gene: CACNA1C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1270 | CACNA1C | Zornitza Stark Gene: cacna1c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1270 | CACNA1C | Zornitza Stark Classified gene: CACNA1C as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1270 | CACNA1C | Zornitza Stark Gene: cacna1c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1269 | CACNA1C |
Zornitza Stark gene: CACNA1C was added gene: CACNA1C was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1C were set to 34163037 Phenotypes for gene: CACNA1C were set to Neurodevelopmental abnormalities and epilepsy, no OMIM# Review for gene: CACNA1C was set to GREEN Added comment: Rodan et al. (2021) reported 25 individuals from 22 families with heterozygous truncating and missense variants in CACNA1C. The individuals presented with developmental delays, intellectual disability, autism, hypotonia, ataxia, and epilepsy BUT absence of classic features of Timothy syndrome or long QT syndrome. Functional studies of a subgroup of missense variants demonstrated loss of function, neutral effect, and gain of function on channel function in vitro. Sources: Literature |
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