Activity
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| Severe microcephaly v8.44 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v8.34 | GTF3C3 | Eleanor Williams Tag Q1_25_ promote_green was removed from gene: GTF3C3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v8.34 | GTF3C3 | Eleanor Williams reviewed gene: GTF3C3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v8.33 | GTF3C3 |
Eleanor Williams 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) |
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| Severe microcephaly v8.32 | GTF3C3 | Arina Puzriakova Added comment: Comment on phenotypes: OMIM phenotype accessed on 11-03-2026 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v8.32 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v7.19 | GTF3C3 | Arina Puzriakova Entity copied from Intellectual disability v8.151 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v7.19 | GTF3C3 |
Arina Puzriakova gene: GTF3C3 was added gene: GTF3C3 was added to Severe microcephaly. Sources: Expert Review Amber,Victorian Clinical Genetics Services,Literature Q1_25_ promote_green tags were added to gene: GTF3C3. Mode of inheritance for gene: GTF3C3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTF3C3 were set to 28940097; 28097321; 30552426; 40040844 Phenotypes for gene: GTF3C3 were set to Global developmental delay; Intellectual disability; Seizures |
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