Activity
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| Intellectual disability v9.273 | CCT8 |
Ida Ertmanska gene: CCT8 was added gene: CCT8 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: CCT8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CCT8 were set to 39480921 Phenotypes for gene: CCT8 were set to CCT8-related neurodevelopmental disorder with brain abnormalities Review for gene: CCT8 was set to AMBER Added comment: PMID: 39480921 Kraft et al., 2024 Report of 2 individuals (20yo male and 79yo male) with heterozygous CCT7 variants: c.925_929del p.(Asn309Hisfs*16) - de novo & c.1166_1169delAAAG, p.(Glu389Glyfs*3) - inheritance not known. Patients presented with DD/ID (2/2), cerebral/pyramidal signs (1), seizures (2/2) and MRI abnormalities: Polymicrogyria (2/2). CCT8 is not yet associated with a disease entity in OMIM (accessed 20th Feb 2026). Sources: Literature |
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| Intellectual disability v9.272 | CCT7 |
Ida Ertmanska gene: CCT7 was added gene: CCT7 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: CCT7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CCT7 were set to 39480921 Phenotypes for gene: CCT7 were set to CCT7-related neurodevelopmental disorder with brain abnormalities Review for gene: CCT7 was set to RED Added comment: PMID: 39480921 Kraft et al., 2024 Report of 1 individual (5yo male) with a de novo heterozygous CCT7 variant: c.1135G>A, p.(Glu379Lys), presenting with DD/ID, cerebral/pyramidal signs, and MRI abnormalities:Inferior vermis hypoplasia, corpus callosum hypoplasia. CCT7 is not yet associated with a disease entity in OMIM (accessed 20th Feb 2026). Sources: Literature |
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