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| Genetic Epilepsy v1.150 | GTF3C3 | Zornitza Stark Phenotypes for gene: GTF3C3 were changed from Neurodevelopmental disorder MONDO:0700092, GTF3C3-related to Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, MIM# 621201 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.149 | GTF3C3 | Zornitza Stark edited their review of gene: GTF3C3: Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, MIM# 621201 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.102 | GTF3C3 | Zornitza Stark Classified gene: GTF3C3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.102 | GTF3C3 | Zornitza Stark Gene: gtf3c3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.102 | GTF3C3 | Zornitza Stark Classified gene: GTF3C3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.102 | GTF3C3 | Zornitza Stark Gene: gtf3c3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.101 | GTF3C3 | Zornitza Stark Marked gene: GTF3C3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.101 | GTF3C3 | Zornitza Stark Gene: gtf3c3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.101 | GTF3C3 | Zornitza Stark reviewed gene: GTF3C3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder MONDO:0700092, GTF3C3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.97 | GTF3C3 |
Chirag Patel gene: GTF3C3 was added gene: GTF3C3 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: GTF3C3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTF3C3 were set to PMID: 39636576 Phenotypes for gene: GTF3C3 were set to Neurodevelopmental disorder MONDO:0700092, GTF3C3-related Review for gene: GTF3C3 was set to GREEN Added comment: 12 affected individuals from 7 unrelated families with homozygous or compound heterozygous missense variants in GTF3C3. Presentation with intellectual disability, variable nonfamilial facial features, motor impairments, seizures, and cerebellar/corpus callosum malformations. Sources: Literature |
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| Genetic Epilepsy v1.97 | GTF3C3 |
Chirag Patel gene: GTF3C3 was added gene: GTF3C3 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: GTF3C3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTF3C3 were set to PMID: 39636576 Phenotypes for gene: GTF3C3 were set to Neurodevelopmental disorder MONDO:0700092, GTF3C3-related Review for gene: GTF3C3 was set to GREEN Added comment: 12 affected individuals from 7 unrelated families with homozygous or compound heterozygous missense variants in GTF3C3. Presentation with intellectual disability, variable nonfamilial facial features, motor impairments, seizures, and cerebellar/corpus callosum malformations. Sources: Literature |
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| Genetic Epilepsy v1.97 | GTF3C3 |
Chirag Patel gene: GTF3C3 was added gene: GTF3C3 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: GTF3C3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTF3C3 were set to PMID: 39636576 Phenotypes for gene: GTF3C3 were set to Neurodevelopmental disorder MONDO:0700092, GTF3C3-related Added comment: 12 affected individuals from 7 unrelated families with homozygous or compound heterozygous missense variants in GTF3C3. Presentation with intellectual disability, variable nonfamilial facial features, motor impairments, seizures, and cerebellar/corpus callosum malformations. Sources: Literature |
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