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Cerebral Palsy v1.389 TRIO Zornitza Stark Marked gene: TRIO as ready
Cerebral Palsy v1.389 TRIO Zornitza Stark Gene: trio has been classified as Red List (Low Evidence).
Cerebral Palsy v1.389 TRIO Zornitza Stark Classified gene: TRIO as Red List (low evidence)
Cerebral Palsy v1.389 TRIO Zornitza Stark Gene: trio has been classified as Red List (Low Evidence).
Cerebral Palsy v1.388 TRIO Zornitza Stark Classified gene: TRIO as Red List (low evidence)
Cerebral Palsy v1.388 TRIO Zornitza Stark Gene: trio has been classified as Red List (Low Evidence).
Cerebral Palsy v1.367 TRIO Clare van Eyk gene: TRIO was added
gene: TRIO was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: TRIO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRIO were set to PMID: 39213953
Phenotypes for gene: TRIO were set to Intellectual developmental disorder, autosomal dominant 44, with microcephaly MIM#617061
Review for gene: TRIO was set to RED
Added comment: Single individual with de novo missense variant in TRIO reported in a monocentric cohort study (PMID: 39213953). Clinically spastic quadriplegia, microcephaly, cortical visual impairment, Lennox Gastaut epilepsy, cerebral atrophy, megacisterna magna, aberrant skull morphology.
Sources: Literature