| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Cerebral Palsy v1.348 | MEF2C | Clare van Eyk reviewed gene: MEF2C: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38553553; Phenotypes: Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language MIM#613443; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.108 | MEF2C | Zornitza Stark Marked gene: MEF2C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.108 | MEF2C | Zornitza Stark Gene: mef2c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.108 | MEF2C | Zornitza Stark Classified gene: MEF2C as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.108 | MEF2C | Zornitza Stark Gene: mef2c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.88 | MEF2C |
Luisa Weiss gene: MEF2C was added gene: MEF2C was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: MEF2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MEF2C were set to 20412115; 25817843; 33528536 Phenotypes for gene: MEF2C were set to Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language MIM#613443 Review for gene: MEF2C was set to GREEN Added comment: Two patients in two large CP cohort studies with MEF2C mutations/deletions. In addition, one case report of two patients with MEF2C mutation with one of them diagnosed as having CP. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||