Activity
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6 actions
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Cerebral Palsy v1.367 | CYFIP2 | Clare van Eyk edited their review of gene: CYFIP2: Added comment: Additional individual with de novo missense variant in CYFIP2 reported in a monocentric cohort study (PMID: 39213953). Clinically ID, spastic quadriplegia, ASD.; Changed rating: AMBER; Changed publications: PMID: 38843839, PMID: 39213953 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.359 | CYFIP2 | Zornitza Stark Marked gene: CYFIP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.359 | CYFIP2 | Zornitza Stark Gene: cyfip2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.359 | CYFIP2 | Zornitza Stark Classified gene: CYFIP2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.359 | CYFIP2 | Zornitza Stark Gene: cyfip2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.356 | CYFIP2 |
Clare van Eyk gene: CYFIP2 was added gene: CYFIP2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: CYFIP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CYFIP2 were set to PMID: 38843839 Phenotypes for gene: CYFIP2 were set to Developmental and epileptic encephalopathy 65, MIM#618008 Review for gene: CYFIP2 was set to RED Added comment: One individual with a complex neurodevelopmental disorder including cerebral palsy reported with a de novo missense variant in CYFIP2 (PMID: 38843839). Sources: Literature |