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| Intellectual disability syndromic and non-syndromic v2.80 | GTF3C1 |
chirag patel gene: GTF3C1 was added gene: GTF3C1 was added to Intellectual disability syndromic and non-syndromic. Sources: Other Mode of inheritance for gene: GTF3C1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GTF3C1 were set to Neurodevelopmental disorder, MONDO:0700092, GTF3C1-related Review for gene: GTF3C1 was set to AMBER Added comment: ESHG 2026 6 individuals from 6 unrelated families (4 consanguineous) with biallelic variants in GTF3C1 which segregated with disease (6 missense, 1 nonsense). Phenotype included developmental delay, intellectual disability, microcephaly, cerebellar atrophy/hypoplasia, abnormal corpus callosum, arthrogryposis, and variable craniofacial features. GTF3C1 encodes a subunit within the general Transcription Factor IIIC (TFIIIC), which is involved general transcription factor activity via recruitment of RNA polymerase III for target gene transcription. Two other TFIIIC subunits, GTF3C3 and GTF3C5, have been implicated in neurodevelopmental disorders. Molecular modelling suggested missense variants disrupt intramolecular interactions, causing instability of the TFIIIC complex. Proteomic analysis using patient cell lines revealed significantly reduced GTF3C1 protein. A relative complex abundance assay demonstrated the five other subunits of the TFIIIC complex were also reduced, and suggests a loss-of-function mechanism. Gtf3c1 knockdown in mouse brain revealed impaired neuronal production and cell cycle exit. Sources: Other |
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| Intellectual disability syndromic and non-syndromic v2.0 | GTF3C3 | Gene migrated from ENSG00000119041 to ENSG00000119041 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.145 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.144 | GTF3C3 | Zornitza Stark edited their review of gene: GTF3C3: Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, MIM# 621201 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.44 | GTF3C3 | chirag patel reviewed gene: GTF3C3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 39636576; Phenotypes: Neurodevelopmental disorder MONDO:0700092, GTF3C3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4763 | GTF3C3 | Zornitza Stark Phenotypes for gene: GTF3C3 were changed from Global developmental delay; Intellectual disability; Seizures to Neurodevelopmental disorder MONDO:0700092, GTF3C3-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4762 | GTF3C3 | Zornitza Stark edited their review of gene: GTF3C3: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, GTF3C3-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.2017 | GTF3C3 | Zornitza Stark Marked gene: GTF3C3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.2017 | GTF3C3 | Zornitza Stark Gene: gtf3c3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.2017 | GTF3C3 | Zornitza Stark Phenotypes for gene: GTF3C3 were changed from Global developmental delay; Intellectual disability; Seizures to Global developmental delay; Intellectual disability; Seizures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.2016 | GTF3C3 | Zornitza Stark Phenotypes for gene: GTF3C3 were changed from to Global developmental delay; Intellectual disability; Seizures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.2015 | GTF3C3 | Zornitza Stark Publications for gene: GTF3C3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.2014 | GTF3C3 | Zornitza Stark Mode of inheritance for gene: GTF3C3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.2013 | GTF3C3 | Zornitza Stark reviewed gene: GTF3C3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940097, 28097321, 30552426; Phenotypes: Global developmental delay, Intellectual disability, Seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | GTF3C3 |
Zornitza Stark gene: GTF3C3 was added gene: GTF3C3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GTF3C3 was set to Unknown |
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