Activity
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| Optic neuropathy v5.46 | CCT3 | Ida Ertmanska Classified gene: CCT3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.46 | CCT3 | Ida Ertmanska Added comment: Comment on list classification: There are 3 unrelated individuals reported with heterozygous CCT3 variants and visual impairment stemming from optic nerve atrophy and hypomyelination - tagged for promotion to Green at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.46 | CCT3 | Ida Ertmanska Gene: cct3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.45 | CCT3 |
Ida Ertmanska gene: CCT3 was added gene: CCT3 was added to Optic neuropathy. Sources: Literature Q1_26_promote_green tags were added to gene: CCT3. Mode of inheritance for gene: CCT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CCT3 were set to 39480921 Phenotypes for gene: CCT3 were set to Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, OMIM:621034; neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MONDO:0976125 Review for gene: CCT3 was set to GREEN Added comment: PMID: 39480921 Kraft et al., 2024 4 individuals aged 2-8 yo, reported with heterozygous CCT3 variants (frameshift, missense, stop gain - all 4 confirmed de novo). Patients presented with ID, seizures, visual impairment and brain malformations. Phenotype spectrum: DD/ID (4/4, severe), seizures (2/4), visual impairment (3/4), pyramidal/cerebellar signs (4/4), brain MRI abnormalities (3/3). MRI findings included cerebellar atrophy, hypomyelination of white matter, hypoplasia of corpus callosum, and atrophy of optic tract, chiasm and optic nerves. CCT3 is associated with Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, OMIM:621034 (OMIM accessed 20th Feb 2026). Sources: Literature |
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