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Intellectual disability v9.376 GTF3C3 Eleanor Williams Phenotypes for gene: GTF3C3 were changed from Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, OMIM:621201 to Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, OMIM:621201; neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, MONDO:0978301
Intellectual disability v9.300 GTF3C3 Arina Puzriakova Tag Q1_25_ promote_green was removed from gene: GTF3C3.
Intellectual disability v9.299 GTF3C3 Arina Puzriakova commented on gene: GTF3C3: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Intellectual disability v9.298 GTF3C3 Arina Puzriakova Source NHS GMS was added to GTF3C3.
Source Expert Review Green was added to GTF3C3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v9.297 GTF3C3 Arina Puzriakova Added comment: Comment on phenotypes: OMIM phenotype accessed on 11-03-2026
Intellectual disability v9.297 GTF3C3 Arina Puzriakova Phenotypes for gene: GTF3C3 were changed from Global developmental delay; Intellectual disability; Seizures to Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, OMIM:621201
Intellectual disability v8.151 GTF3C3 Arina Puzriakova Classified gene: GTF3C3 as Amber List (moderate evidence)
Intellectual disability v8.151 GTF3C3 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.
Intellectual disability v8.151 GTF3C3 Arina Puzriakova Gene: gtf3c3 has been classified as Amber List (Moderate Evidence).
Intellectual disability v8.150 GTF3C3 Arina Puzriakova Tag watchlist was removed from gene: GTF3C3.
Tag Q1_25_ promote_green tag was added to gene: GTF3C3.
Intellectual disability v8.150 GTF3C3 Arina Puzriakova edited their review of gene: GTF3C3: Added comment: - PMID: 39636576 (2025) - 12 individuals from 7 unrelated families were identified with homozygous or compound heterozygous missense variants in GTF3C3 (8 unpublished individuals combined with newly ascertained information from 4 published individuals). The cohort presented with intellectual disability, variable nonfamilial facial features, motor impairments, seizures, and cerebellar/corpus callosum malformations.

- PMID: 40040844 (2025) - 4 patients from 3 unrelated families with biallelic variants in this gene and microcephaly, developmental delay, intellectual disability, seizures and distinctive dysmorphic facies. Knockout zebrafish recapitulated the key clinical symptoms including microcephaly, brain anomalies and seizure susceptibility.; Changed rating: GREEN; Changed publications to: 39636576, 40040844; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v8.150 GTF3C3 Arina Puzriakova Added comment: Comment on publications: PMID: 40040844 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Intellectual disability v8.150 GTF3C3 Arina Puzriakova Publications for gene: GTF3C3 were set to 28940097, 28097321; 30552426
Intellectual disability v2.990 GTF3C3 Catherine Snow Classified gene: GTF3C3 as Amber List (moderate evidence)
Intellectual disability v2.990 GTF3C3 Catherine Snow Gene: gtf3c3 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.989 GTF3C3 Catherine Snow reviewed gene: GTF3C3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability v2.987 GTF3C3 Catherine Snow Tag watchlist tag was added to gene: GTF3C3.
Intellectual disability v2.987 GTF3C3 Catherine Snow Phenotypes for gene: GTF3C3 were changed from to Global developmental delay; Intellectual disability; Seizures
Intellectual disability v2.987 GTF3C3 Catherine Snow Publications for gene: GTF3C3 were set to 28940097, 28097321
Intellectual disability v2.587 GTF3C3 Konstantinos Varvagiannis reviewed gene: GTF3C3: Rating: AMBER; Mode of pathogenicity: None; Publications: 30552426, 28940097, 28097321; Phenotypes: Global developmental delay, Intellectual disability, Seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.468 GTF3C3 Louise Daugherty Source Victorian Clinical Genetics Services was added to GTF3C3.
Intellectual disability GTF3C3 Zornitza Stark Added gene to panel