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Genetic Epilepsy v2.0 GTF3C3 Gene migrated from ENSG00000119041 to ENSG00000119041 (gene set migration)
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
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
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