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Intellectual disability syndromic and non-syndromic v1.19 CCT6A Ain Roesley Classified gene: CCT6A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.19 CCT6A Ain Roesley Gene: cct6a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.18 CCT6A Ain Roesley Marked gene: CCT6A as ready
Intellectual disability syndromic and non-syndromic v1.18 CCT6A Ain Roesley Gene: cct6a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v1.18 CCT6A Ain Roesley gene: CCT6A was added
gene: CCT6A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CCT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCT6A were set to 39480921
Phenotypes for gene: CCT6A were set to neurodevelopmental disorder MONDO:0700092, CCT6A-related
Penetrance for gene: CCT6A were set to Complete
Review for gene: CCT6A was set to GREEN
gene: CCT6A was marked as current diagnostic
Added comment: previously known as CCT6

5x individuals including 4x de novo
3x PTCS + 1x +5C>G + 1x missense

4/5 DD/ID
2/5 visual impairment
2/5 seizures
Sources: Literature