Activity
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| Intellectual disability v9.99 | CCT6A | Arina Puzriakova Tag gene-checked tag was added to gene: CCT6A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.99 | CCT6A | Arina Puzriakova Classified gene: CCT6A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.99 | CCT6A | Arina Puzriakova Added comment: Comment on list classification: This gene can be promoted to Green at the next GMS panel update. Phenotype is quite variable and unspecific - DD/ID is the most common feature observed among affected individuals so worth adding to this panel to enable capture of variants in this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.99 | CCT6A | Arina Puzriakova Gene: cct6a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.98 | CCT6A |
Arina Puzriakova gene: CCT6A was added gene: CCT6A was added to Intellectual disability. Sources: Literature Q3_25_promote_green tags were added to gene: CCT6A. Mode of inheritance for gene: CCT6A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CCT6A were set to 39480921 Phenotypes for gene: CCT6A were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: CCT6A was set to GREEN Added comment: PMID: 39480921 (2024) - 5 unrelated individuals with variants in the CCT6A gene, including 4 de novo (4 LoF, 2 missense), presenting with neurodevelopmental disorders. Main clinical features include DD/ID (4/5), pyramidal/cerebellar signs (3/4), variable brain abnormalities (3/5), microcephaly (2/5 - severe only in one) seizures (2/4), visual impairment (2/5). Sources: Literature |
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