Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Cerebral Palsy v1.148 | RAB3GAP1 | Zornitza Stark Marked gene: RAB3GAP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.148 | RAB3GAP1 | Zornitza Stark Gene: rab3gap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.148 | RAB3GAP1 | Zornitza Stark Classified gene: RAB3GAP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.148 | RAB3GAP1 | Zornitza Stark Gene: rab3gap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.144 | RAB3GAP1 |
Luisa Weiss gene: RAB3GAP1 was added gene: RAB3GAP1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB3GAP1 were set to 33528536; 16532399; 27081543 Phenotypes for gene: RAB3GAP1 were set to Martsolf syndrome 2 MIM#619420; Warburg micro syndrome MIM#600118 Review for gene: RAB3GAP1 was set to GREEN Added comment: Multiple case reports of patients with either Martsolf syndrome or Warburg micro syndrome and spastic diplegia or cerebral palsy, but all patients also presented with eye phenotype. In addition, two individuals in a large CP cohort study (no additional phenotypic information given). Sources: Literature |