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| Intellectual disability v9.268 | TCP1 | Ida Ertmanska Phenotypes for gene: TCP1 were changed from Intellectual developmental disorder with polymicrogyria and seizures, OMIM:621021 to Intellectual developmental disorder with polymicrogyria and seizures, OMIM:621021; intellectual developmental disorder with polymicrogyria and seizures, MONDO:0976124 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.267 | TCP1 | Ida Ertmanska Classified gene: TCP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.267 | TCP1 | Ida Ertmanska Added comment: Comment on list classification: There are more than 3 unrelated individuals reported with syndromic intellectual disability and heterozygous TCP1 variants - tagged for promotion to Green at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.267 | TCP1 | Ida Ertmanska Gene: tcp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.266 | TCP1 |
Ida Ertmanska gene: TCP1 was added gene: TCP1 was added to Intellectual disability. Sources: Literature Q1_26_promote_green tags were added to gene: TCP1. Mode of inheritance for gene: TCP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TCP1 were set to 39480921 Phenotypes for gene: TCP1 were set to Intellectual developmental disorder with polymicrogyria and seizures, OMIM:621021 Review for gene: TCP1 was set to GREEN Added comment: PMID: 39480921 Kraft et al., 2024 8 individuals reported with heterozygous TCP1 (CCT1) variants (frameshift, missense, stop gain - 5 confirmed de novo). Patients presented with ID, seizures, and brain malformations. Phenotype spectrum: DD/ID of variable severity (6/6 assessed), seizures (6/7), visual impairment (2/7), pyramidal signs (4 individuals), brain MRI abnormalities (7/8). MRI findings included polymicrogyria, heterotopia, ventriculomegaly and white matter hyperintensities, hypoplasia of corpus callosum. TCP1 is associated with Intellectual developmental disorder with polymicrogyria and seizures, OMIM:621021 (OMIM accessed 20th Feb 2026). Sources: Literature |
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